Canonical Allele Identifier: CA982966

Gene: CLCC1 GPSM2 AKNAD1

Linked Data

• dbSNP Id: rs61754640
• ExAC: 1:109446750 G / C
• gnomAD v2: 1-109446750-G-C
• gnomAD v3: 1-108904128-G-C
• gnomAD v4: 1-108904128-G-C
• MyVariant Identifiers: chr1:g.109446750G>C (hg19) ; chr1:g.108904128G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.108904128G>C , CM000663.2:g.108904128G>C	GRCh38
NC_000001.10:g.109446750G>C , CM000663.1:g.109446750G>C	GRCh37
NC_000001.9:g.109248273G>C	NCBI36
NG_028108.1:g.32148G>C
NG_028108.2:g.33779G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000690509.1:c.*46-21880C>G (CLCC1)	ENSP00000510142.1:n.*46-21880C>G
ENST00000264126.9:c.1066G>C (GPSM2) MANE Select	ENSP00000264126.3:p.Gly356Arg
ENST00000357393.6:c.1-54552C>G (AKNAD1)	ENSP00000349968.6:n.1-54552C>G
ENST00000441735.2:c.1066G>C (GPSM2)	ENSP00000390629.2:p.Gly356Arg
ENST00000446797.2:c.1066G>C (GPSM2)	ENSP00000392138.2:p.Gly356Arg
ENST00000642355.1:c.1066G>C (GPSM2)	ENSP00000496104.1:p.Gly356Arg
ENST00000643643.1:c.155G>C (GPSM2)
ENST00000643921.1:n.69G>C (GPSM2)
ENST00000645164.2:c.1066G>C (GPSM2)	ENSP00000496756.2:p.Gly356Arg
ENST00000645255.1:c.588G>C (GPSM2)
ENST00000674700.1:c.1009G>C (GPSM2)	ENSP00000501743.1:p.Gly337Arg
ENST00000674731.1:c.1009G>C (GPSM2)	ENSP00000502401.1:p.Gly337Arg
ENST00000674914.1:c.1117G>C (GPSM2)	ENSP00000501579.1:p.Gly373Arg
ENST00000675086.1:c.1066G>C (GPSM2)	ENSP00000502476.1:p.Gly356Arg
ENST00000675087.1:c.1117G>C (GPSM2)	ENSP00000502020.1:p.Gly373Arg
ENST00000675617.1:n.1628G>C (GPSM2)
ENST00000675740.1:n.841G>C (GPSM2)
ENST00000675776.1:n.2451G>C (GPSM2)
ENST00000676184.1:c.1066G>C (GPSM2)	ENSP00000502178.1:p.Gly356Arg
ENST00000676404.1:c.1009G>C (GPSM2)	ENSP00000502346.1:p.Gly337Arg
ENST00000264126.7:c.1066G>C (GPSM2)	ENSP00000264126.3:p.Gly356Arg
ENST00000357393.5:c.115-54552C>G	ENSP00000349968.5:n.115-54552C>G
ENST00000406462.6:c.1066G>C (GPSM2)	ENSP00000385510.1:p.Gly356Arg
NM_013296.4:c.1066G>C (GPSM2)	NP_037428.3:p.Gly356Arg
XM_005270787.2:c.1066G>C (GPSM2)	XP_005270844.1:p.Gly356Arg
XM_006710589.1:c.1009G>C (GPSM2)	XP_006710652.1:p.Gly337Arg
XM_011541301.1:c.1066G>C (GPSM2)	XP_011539603.1:p.Gly356Arg
XM_011541302.1:c.1066G>C (GPSM2)	XP_011539604.1:p.Gly356Arg
XM_011541303.1:c.1066G>C (GPSM2)	XP_011539605.1:p.Gly356Arg
NM_001321038.1:c.1066G>C (GPSM2)	NP_001307967.1:p.Gly356Arg
NM_001321039.1:c.1066G>C (GPSM2)	NP_001307968.1:p.Gly356Arg
XM_006710589.3:c.1009G>C (GPSM2)	XP_006710652.1:p.Gly337Arg
XM_011541301.2:c.1066G>C (GPSM2)	XP_011539603.1:p.Gly356Arg
XM_011541302.3:c.1066G>C (GPSM2)	XP_011539604.1:p.Gly356Arg
XM_011541303.3:c.1066G>C (GPSM2)	XP_011539605.1:p.Gly356Arg
XM_017001097.2:c.1066G>C (GPSM2)	XP_016856586.1:p.Gly356Arg
XM_017001098.2:c.1066G>C (GPSM2)	XP_016856587.1:p.Gly356Arg
NM_013296.5:c.1066G>C (GPSM2) MANE Select	NP_037428.3:p.Gly356Arg
NM_001321038.2:c.1066G>C (GPSM2)	NP_001307967.1:p.Gly356Arg
NM_001321039.2:c.1066G>C (GPSM2)	NP_001307968.1:p.Gly356Arg
NM_001321039.3:c.1066G>C (GPSM2)	NP_001307968.1:p.Gly356Arg