Canonical Allele Identifier: CA341451076

Gene: CLCC1 GPSM2 AKNAD1

Linked Data

• gnomAD v4: 1-108924011-C-G
• MyVariant Identifiers: chr1:g.109466633C>G (hg19) ; chr1:g.108924011C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.108924011C>G , CM000663.2:g.108924011C>G	GRCh38
NC_000001.10:g.109466633C>G , CM000663.1:g.109466633C>G	GRCh37
NC_000001.9:g.109268156C>G	NCBI36
NG_028108.1:g.52031C>G
NG_028108.2:g.53662C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000690509.1:c.*45+10614G>C (CLCC1)	ENSP00000510142.1:n.*45+10614G>C
ENST00000264126.9:c.1612C>G (GPSM2) MANE Select	ENSP00000264126.3:p.Pro538Ala
ENST00000357393.6:c.-1+39350G>C (AKNAD1)	ENSP00000349968.6:n.-1+39350G>C
ENST00000441735.2:c.1612C>G (GPSM2)	ENSP00000390629.2:p.Pro538Ala
ENST00000446797.2:c.1612C>G (GPSM2)	ENSP00000392138.2:p.Pro538Ala
ENST00000642355.1:c.1612C>G (GPSM2)	ENSP00000496104.1:p.Pro538Ala
ENST00000643643.1:c.701C>G (GPSM2)
ENST00000645164.2:c.1612C>G (GPSM2)	ENSP00000496756.2:p.Pro538Ala
ENST00000674700.1:c.1543+1435C>G (GPSM2)	ENSP00000501743.1:n.1543+1435C>G
ENST00000674731.1:c.*329C>G (GPSM2)	ENSP00000502401.1:n.*329C>G
ENST00000674914.1:c.1663C>G (GPSM2)	ENSP00000501579.1:p.Pro555Ala
ENST00000675086.1:c.1435C>G (GPSM2)	ENSP00000502476.1:p.Pro479Ala
ENST00000675087.1:c.1663C>G (GPSM2)	ENSP00000502020.1:p.Pro555Ala
ENST00000675740.1:n.1227C>G (GPSM2)
ENST00000676184.1:c.1612C>G (GPSM2)	ENSP00000502178.1:p.Pro538Ala
ENST00000676404.1:c.*518C>G (GPSM2)	ENSP00000502346.1:n.*518C>G
ENST00000264126.7:c.1612C>G (GPSM2)	ENSP00000264126.3:p.Pro538Ala
ENST00000357393.5:c.114+39350G>C	ENSP00000349968.5:n.114+39350G>C
ENST00000406462.6:c.1612C>G (GPSM2)	ENSP00000385510.1:p.Pro538Ala
ENST00000441735.1:c.381C>G (GPSM2)
NM_013296.4:c.1612C>G (GPSM2)	NP_037428.3:p.Pro538Ala
XM_005270787.2:c.1612C>G (GPSM2)	XP_005270844.1:p.Pro538Ala
XM_006710589.1:c.1555C>G (GPSM2)	XP_006710652.1:p.Pro519Ala
XM_011541301.1:c.1612C>G (GPSM2)	XP_011539603.1:p.Pro538Ala
XM_011541302.1:c.1612C>G (GPSM2)	XP_011539604.1:p.Pro538Ala
NM_001321038.1:c.1612C>G (GPSM2)	NP_001307967.1:p.Pro538Ala
NM_001321039.1:c.1612C>G (GPSM2)	NP_001307968.1:p.Pro538Ala
XM_006710589.3:c.1555C>G (GPSM2)	XP_006710652.1:p.Pro519Ala
XM_011541301.2:c.1612C>G (GPSM2)	XP_011539603.1:p.Pro538Ala
XM_011541302.3:c.1612C>G (GPSM2)	XP_011539604.1:p.Pro538Ala
XM_017001097.2:c.1612C>G (GPSM2)	XP_016856586.1:p.Pro538Ala
XM_017001098.2:c.1612C>G (GPSM2)	XP_016856587.1:p.Pro538Ala
NM_013296.5:c.1612C>G (GPSM2) MANE Select	NP_037428.3:p.Pro538Ala
NM_001321038.2:c.1612C>G (GPSM2)	NP_001307967.1:p.Pro538Ala
NM_001321039.2:c.1612C>G (GPSM2)	NP_001307968.1:p.Pro538Ala
NM_001321039.3:c.1612C>G (GPSM2)	NP_001307968.1:p.Pro538Ala