Canonical Allele Identifier: CA982755

Gene: CLCC1 GPSM2 AKNAD1

Linked Data

• ClinVar Variation Id: 291700
• ClinVar RCV Id: RCV000290642
• dbSNP Id: rs757227955
• ExAC: 1:109439707 G / A
• gnomAD v2: 1-109439707-G-A
• gnomAD v3: 1-108897085-G-A
• gnomAD v4: 1-108897085-G-A
• COSMIC: COSM4606395
• MyVariant Identifiers: chr1:g.109439707G>A (hg19) ; chr1:g.108897085G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.108897085G>A , CM000663.2:g.108897085G>A	GRCh38
NC_000001.10:g.109439707G>A , CM000663.1:g.109439707G>A	GRCh37
NC_000001.9:g.109241230G>A	NCBI36
NG_028108.1:g.25105G>A
NG_028108.2:g.26736G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000690509.1:c.*46-14837C>T (CLCC1)	ENSP00000510142.1:n.*46-14837C>T
ENST00000264126.9:c.278G>A (GPSM2) MANE Select	ENSP00000264126.3:p.Arg93Lys
ENST00000357393.6:c.1-47509C>T (AKNAD1)	ENSP00000349968.6:n.1-47509C>T
ENST00000441735.2:c.278G>A (GPSM2)	ENSP00000390629.2:p.Arg93Lys
ENST00000446797.2:c.278G>A (GPSM2)	ENSP00000392138.2:p.Arg93Lys
ENST00000642355.1:c.278G>A (GPSM2)	ENSP00000496104.1:p.Arg93Lys
ENST00000643094.1:c.278G>A (GPSM2)	ENSP00000495317.1:p.Arg93Lys
ENST00000645164.2:c.278G>A (GPSM2)	ENSP00000496756.2:p.Arg93Lys
ENST00000674700.1:c.221G>A (GPSM2)	ENSP00000501743.1:p.Arg74Lys
ENST00000674731.1:c.221G>A (GPSM2)	ENSP00000502401.1:p.Arg74Lys
ENST00000674914.1:c.329G>A (GPSM2)	ENSP00000501579.1:p.Arg110Lys
ENST00000675086.1:c.278G>A (GPSM2)	ENSP00000502476.1:p.Arg93Lys
ENST00000675087.1:c.329G>A (GPSM2)	ENSP00000502020.1:p.Arg110Lys
ENST00000675617.1:n.840G>A (GPSM2)
ENST00000675776.1:n.773G>A (GPSM2)
ENST00000675829.1:n.795G>A (GPSM2)
ENST00000676184.1:c.278G>A (GPSM2)	ENSP00000502178.1:p.Arg93Lys
ENST00000676404.1:c.221G>A (GPSM2)	ENSP00000502346.1:p.Arg74Lys
ENST00000264126.7:c.278G>A (GPSM2)	ENSP00000264126.3:p.Arg93Lys
ENST00000357393.5:c.115-47509C>T	ENSP00000349968.5:n.115-47509C>T
ENST00000406462.6:c.278G>A (GPSM2)	ENSP00000385510.1:p.Arg93Lys
ENST00000435987.5:c.278G>A (GPSM2)	ENSP00000408664.1:p.Arg93Lys
NM_013296.4:c.278G>A (GPSM2)	NP_037428.3:p.Arg93Lys
XM_005270787.2:c.278G>A (GPSM2)	XP_005270844.1:p.Arg93Lys
XM_006710589.1:c.221G>A (GPSM2)	XP_006710652.1:p.Arg74Lys
XM_011541301.1:c.278G>A (GPSM2)	XP_011539603.1:p.Arg93Lys
XM_011541302.1:c.278G>A (GPSM2)	XP_011539604.1:p.Arg93Lys
XM_011541303.1:c.278G>A (GPSM2)	XP_011539605.1:p.Arg93Lys
NM_001321038.1:c.278G>A (GPSM2)	NP_001307967.1:p.Arg93Lys
NM_001321039.1:c.278G>A (GPSM2)	NP_001307968.1:p.Arg93Lys
XM_006710589.3:c.221G>A (GPSM2)	XP_006710652.1:p.Arg74Lys
XM_011541301.2:c.278G>A (GPSM2)	XP_011539603.1:p.Arg93Lys
XM_011541302.3:c.278G>A (GPSM2)	XP_011539604.1:p.Arg93Lys
XM_011541303.3:c.278G>A (GPSM2)	XP_011539605.1:p.Arg93Lys
XM_017001097.2:c.278G>A (GPSM2)	XP_016856586.1:p.Arg93Lys
XM_017001098.2:c.278G>A (GPSM2)	XP_016856587.1:p.Arg93Lys
NM_013296.5:c.278G>A (GPSM2) MANE Select	NP_037428.3:p.Arg93Lys
NM_001321038.2:c.278G>A (GPSM2)	NP_001307967.1:p.Arg93Lys
NM_001321039.2:c.278G>A (GPSM2)	NP_001307968.1:p.Arg93Lys
NM_001321039.3:c.278G>A (GPSM2)	NP_001307968.1:p.Arg93Lys