Canonical Allele Identifier: CA10607438

Gene: CLCC1 GPSM2 AKNAD1

Linked Data

• ClinVar Variation Id: 291711
• ClinVar RCV Id: RCV000286644 ; RCV001537426
• dbSNP Id: rs1051868
• gnomAD v2: 1-109472773-G-A
• gnomAD v3: 1-108930151-G-A
• gnomAD v4: 1-108930151-G-A
• MyVariant Identifiers: chr1:g.109472773G>A (hg19) ; chr1:g.108930151G>A (hg38)
• Allelic Epigenome: Alellic Epigenome (raw data)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.108930151G>A , CM000663.2:g.108930151G>A	GRCh38
NC_000001.10:g.109472773G>A , CM000663.1:g.109472773G>A	GRCh37
NC_000001.9:g.109274296G>A	NCBI36
NG_028108.1:g.58171G>A
NG_028108.2:g.59802G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000369976.6:c.3706C>T (CLCC1)
ENST00000473062.2:c.160C>T (CLCC1)
ENST00000482889.2:c.581C>T (CLCC1)
ENST00000685014.1:c.*2396C>T (CLCC1)	ENSP00000510582.1:n.*2396C>T
ENST00000685104.1:c.*2396C>T (CLCC1)	ENSP00000508473.1:n.*2396C>T
ENST00000685497.1:c.*2396C>T (CLCC1)	ENSP00000509420.1:n.*2396C>T
ENST00000685540.1:c.*2396C>T (CLCC1)	ENSP00000510352.1:n.*2396C>T
ENST00000685791.1:c.*2401C>T (CLCC1)	ENSP00000509029.1:n.*2401C>T
ENST00000686434.1:c.*2396C>T (CLCC1)	ENSP00000508570.1:n.*2396C>T
ENST00000686576.1:c.*3190C>T (CLCC1)	ENSP00000508853.1:n.*3190C>T
ENST00000686776.1:c.*2396C>T (CLCC1)	ENSP00000509013.1:n.*2396C>T
ENST00000686817.1:c.*2401C>T (CLCC1)	ENSP00000510123.1:n.*2401C>T
ENST00000686821.1:c.*2396C>T (CLCC1)	ENSP00000508563.1:n.*2396C>T
ENST00000687099.1:c.*2401C>T (CLCC1)	ENSP00000509546.1:n.*2401C>T
ENST00000687134.1:c.*2396C>T (CLCC1)	ENSP00000510579.1:n.*2396C>T
ENST00000687226.1:c.*2396C>T (CLCC1)	ENSP00000509162.1:n.*2396C>T
ENST00000687328.1:c.*2396C>T (CLCC1)	ENSP00000508816.1:n.*2396C>T
ENST00000687449.1:c.*2401C>T (CLCC1)	ENSP00000508982.1:n.*2401C>T
ENST00000687591.1:c.*2396C>T (CLCC1)	ENSP00000509036.1:n.*2396C>T
ENST00000687646.1:c.*2396C>T (CLCC1)	ENSP00000509187.1:n.*2396C>T
ENST00000687675.1:n.4445C>T (CLCC1)
ENST00000687734.1:c.*2396C>T (CLCC1)	ENSP00000510543.1:n.*2396C>T
ENST00000687865.1:c.*2401C>T (CLCC1)	ENSP00000509218.1:n.*2401C>T
ENST00000687998.1:n.6163C>T (CLCC1)
ENST00000688070.1:c.*3301C>T (CLCC1)	ENSP00000508766.1:n.*3301C>T
ENST00000688285.1:c.*2401C>T (CLCC1)	ENSP00000509990.1:n.*2401C>T
ENST00000688298.1:n.3937C>T (CLCC1)
ENST00000688778.1:c.*2396C>T (CLCC1)	ENSP00000510715.1:n.*2396C>T
ENST00000689103.1:c.*2396C>T (CLCC1)	ENSP00000510039.1:n.*2396C>T
ENST00000689189.1:c.*2401C>T (CLCC1)	ENSP00000510675.1:n.*2401C>T
ENST00000689351.1:c.*2396C>T (CLCC1)	ENSP00000508607.1:n.*2396C>T
ENST00000689479.1:c.*2396C>T (CLCC1)	ENSP00000510122.1:n.*2396C>T
ENST00000689991.1:c.*2396C>T (CLCC1)	ENSP00000508952.1:n.*2396C>T
ENST00000690509.1:c.*45+4474C>T (CLCC1)	ENSP00000510142.1:n.*45+4474C>T
ENST00000690707.1:n.3907C>T (CLCC1)
ENST00000690756.1:c.*2396C>T (CLCC1)	ENSP00000509544.1:n.*2396C>T
ENST00000690781.1:c.*2401C>T (CLCC1)	ENSP00000510137.1:n.*2401C>T
ENST00000691342.1:c.*2396C>T (CLCC1)	ENSP00000509738.1:n.*2396C>T
ENST00000691513.1:c.*2396C>T (CLCC1)	ENSP00000509584.1:n.*2396C>T
ENST00000691556.1:c.*2401C>T (CLCC1)	ENSP00000509451.1:n.*2401C>T
ENST00000691777.1:c.*2396C>T (CLCC1)	ENSP00000508556.1:n.*2396C>T
ENST00000692184.1:c.370C>T (CLCC1)
ENST00000692342.1:c.*2396C>T (CLCC1)	ENSP00000509495.1:n.*2396C>T
ENST00000692511.1:c.*2396C>T (CLCC1)	ENSP00000510067.1:n.*2396C>T
ENST00000692584.1:n.3500C>T (CLCC1)
ENST00000692775.1:c.*3869C>T (CLCC1)	ENSP00000509201.1:n.*3869C>T
ENST00000693336.1:c.*2396C>T (CLCC1)	ENSP00000509936.1:n.*2396C>T
ENST00000264126.9:c.*211G>A (GPSM2) MANE Select	ENSP00000264126.3:n.*211G>A
ENST00000357393.6:c.-1+33210C>T (AKNAD1)	ENSP00000349968.6:n.-1+33210C>T
ENST00000369968.7:c.*2396C>T (CLCC1)	ENSP00000358985.3:n.*2396C>T
ENST00000369969.7:c.*2396C>T (CLCC1) MANE Select	ENSP00000358986.3:n.*2396C>T
ENST00000446797.2:c.*211G>A (GPSM2)	ENSP00000392138.2:n.*211G>A
ENST00000642355.1:c.*35+176G>A (GPSM2)	ENSP00000496104.1:n.*35+176G>A
ENST00000645164.2:c.*211G>A (GPSM2)	ENSP00000496756.2:n.*211G>A
ENST00000674700.1:c.*434G>A (GPSM2)	ENSP00000501743.1:n.*434G>A
ENST00000674731.1:c.*983G>A (GPSM2)	ENSP00000502401.1:n.*983G>A
ENST00000674914.1:c.*211G>A (GPSM2)	ENSP00000501579.1:n.*211G>A
ENST00000674992.1:c.*3869C>T (CLCC1)	ENSP00000501696.1:n.*3869C>T
ENST00000675001.1:c.*3869C>T (CLCC1)	ENSP00000502551.1:n.*3869C>T
ENST00000675018.1:c.*2396C>T (CLCC1)	ENSP00000501777.1:n.*2396C>T
ENST00000675086.1:c.*211G>A (GPSM2)	ENSP00000502476.1:n.*211G>A
ENST00000675087.1:c.*211G>A (GPSM2)	ENSP00000502020.1:n.*211G>A
ENST00000675740.1:n.1881G>A (GPSM2)
ENST00000676184.1:c.*211G>A (GPSM2)	ENSP00000502178.1:n.*211G>A
ENST00000264126.7:c.*211G>A (GPSM2)	ENSP00000264126.3:n.*211G>A
ENST00000356970.6:c.*2396C>T (CLCC1)	ENSP00000349456.2:n.*2396C>T
ENST00000357393.5:c.114+33210C>T	ENSP00000349968.5:n.114+33210C>T
ENST00000369968.6:c.*2396C>T (CLCC1)	ENSP00000358985.2:n.*2396C>T
ENST00000369969.6:c.*2396C>T (CLCC1)	ENSP00000358986.2:n.*2396C>T
ENST00000369976.5:c.*1205C>T (CLCC1)	ENSP00000358993.1:n.*1205C>T
ENST00000406462.6:c.*211G>A (GPSM2)	ENSP00000385510.1:n.*211G>A
ENST00000473062.1:n.107C>T (CLCC1)
ENST00000482889.1:n.581C>T (CLCC1)
NM_001048210.2:c.*2396C>T (CLCC1)	NP_001041675.1:n.*2396C>T
NM_001278202.1:c.*2396C>T (CLCC1)	NP_001265131.1:n.*2396C>T
NM_001278203.1:c.*2396C>T (CLCC1)	NP_001265132.1:n.*2396C>T
NM_013296.4:c.*211G>A (GPSM2)	NP_037428.3:n.*211G>A
NM_015127.4:c.*2396C>T (CLCC1)	NP_055942.1:n.*2396C>T
XM_005270787.2:c.*211G>A (GPSM2)	XP_005270844.1:n.*211G>A
XM_006710589.1:c.*211G>A (GPSM2)	XP_006710652.1:n.*211G>A
XM_011541301.1:c.*211G>A (GPSM2)	XP_011539603.1:n.*211G>A
XM_011541302.1:c.*211G>A (GPSM2)	XP_011539604.1:n.*211G>A
NM_001321038.1:c.*211G>A (GPSM2)	NP_001307967.1:n.*211G>A
NM_001321039.1:c.*35+176G>A (GPSM2)	NP_001307968.1:n.*35+176G>A
XM_006710589.3:c.*211G>A (GPSM2)	XP_006710652.1:n.*211G>A
XM_011541301.2:c.*211G>A (GPSM2)	XP_011539603.1:n.*211G>A
XM_011541302.3:c.*211G>A (GPSM2)	XP_011539604.1:n.*211G>A
XM_017001097.2:c.*211G>A (GPSM2)	XP_016856586.1:n.*211G>A
XM_017001098.2:c.*211G>A (GPSM2)	XP_016856587.1:n.*211G>A
NM_013296.5:c.*211G>A (GPSM2) MANE Select	NP_037428.3:n.*211G>A
NM_001048210.3:c.*2396C>T (CLCC1)	NP_001041675.1:n.*2396C>T
NM_001278202.2:c.*2396C>T (CLCC1)	NP_001265131.1:n.*2396C>T
NM_001321038.2:c.*211G>A (GPSM2)	NP_001307967.1:n.*211G>A
NM_001321039.2:c.*35+176G>A (GPSM2)	NP_001307968.1:n.*35+176G>A
NM_001377458.1:c.*2396C>T (CLCC1) MANE Select	NP_001364387.1:n.*2396C>T
NM_001377459.1:c.*2401C>T (CLCC1)	NP_001364388.1:n.*2401C>T
NM_001377460.1:c.*2401C>T (CLCC1)	NP_001364389.1:n.*2401C>T
NM_001377461.1:c.*2396C>T (CLCC1)	NP_001364390.1:n.*2396C>T
NM_001377462.1:c.*2401C>T (CLCC1)	NP_001364391.1:n.*2401C>T
NM_001377463.1:c.*2396C>T (CLCC1)	NP_001364392.1:n.*2396C>T
NM_001377464.1:c.*2396C>T (CLCC1)	NP_001364393.1:n.*2396C>T
NM_001377465.1:c.*2396C>T (CLCC1)	NP_001364394.1:n.*2396C>T
NM_001377466.1:c.*2396C>T (CLCC1)	NP_001364395.1:n.*2396C>T
NM_001377467.1:c.*2396C>T (CLCC1)	NP_001364396.1:n.*2396C>T
NM_001377468.1:c.*2401C>T (CLCC1)	NP_001364397.1:n.*2401C>T
NM_001377469.1:c.*2396C>T (CLCC1)	NP_001364398.1:n.*2396C>T
NM_001377470.1:c.*2396C>T (CLCC1)	NP_001364399.1:n.*2396C>T
NM_015127.5:c.*2396C>T (CLCC1)	NP_055942.1:n.*2396C>T
NR_165299.1:n.4667C>T (CLCC1)
NM_001321039.3:c.*35+176G>A (GPSM2)	NP_001307968.1:n.*35+176G>A