Canonical Allele Identifier: CA28604833

Gene: CLCC1 GPSM2 AKNAD1

Linked Data

• dbSNP Id: rs953111232
• gnomAD v3: 1-108914578-G-A
• gnomAD v4: 1-108914578-G-A
• MyVariant Identifiers: chr1:g.109457200G>A (hg19) ; chr1:g.108914578G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.108914578G>A , CM000663.2:g.108914578G>A	GRCh38
NC_000001.10:g.109457200G>A , CM000663.1:g.109457200G>A	GRCh37
NC_000001.9:g.109258723G>A	NCBI36
NG_028108.1:g.42598G>A
NG_028108.2:g.44229G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000690509.1:c.*45+20047C>T (CLCC1)	ENSP00000510142.1:n.*45+20047C>T
ENST00000264126.9:c.1263+170G>A (GPSM2) MANE Select	ENSP00000264126.3:n.1263+170G>A
ENST00000357393.6:c.-1+48783C>T (AKNAD1)	ENSP00000349968.6:n.-1+48783C>T
ENST00000441735.2:c.1263+170G>A (GPSM2)	ENSP00000390629.2:n.1263+170G>A
ENST00000446797.2:c.1263+170G>A (GPSM2)	ENSP00000392138.2:n.1263+170G>A
ENST00000642355.1:c.1263+170G>A (GPSM2)	ENSP00000496104.1:n.1263+170G>A
ENST00000643643.1:c.352+170G>A (GPSM2)
ENST00000645164.2:c.1263+170G>A (GPSM2)	ENSP00000496756.2:n.1263+170G>A
ENST00000674700.1:c.1206+170G>A (GPSM2)	ENSP00000501743.1:n.1206+170G>A
ENST00000674731.1:c.1136-4035G>A (GPSM2)	ENSP00000502401.1:n.1136-4035G>A
ENST00000674914.1:c.1314+170G>A (GPSM2)	ENSP00000501579.1:n.1314+170G>A
ENST00000675086.1:c.1263+170G>A (GPSM2)	ENSP00000502476.1:n.1263+170G>A
ENST00000675087.1:c.1314+170G>A (GPSM2)	ENSP00000502020.1:n.1314+170G>A
ENST00000675617.1:n.1826-50G>A (GPSM2)
ENST00000675740.1:n.1038+170G>A (GPSM2)
ENST00000676184.1:c.1263+170G>A (GPSM2)	ENSP00000502178.1:n.1263+170G>A
ENST00000676404.1:c.1206+170G>A (GPSM2)	ENSP00000502346.1:n.1206+170G>A
ENST00000264126.7:c.1263+170G>A (GPSM2)	ENSP00000264126.3:n.1263+170G>A
ENST00000357393.5:c.114+48783C>T	ENSP00000349968.5:n.114+48783C>T
ENST00000406462.6:c.1263+170G>A (GPSM2)	ENSP00000385510.1:n.1263+170G>A
ENST00000441735.1:c.32+170G>A (GPSM2)
NM_013296.4:c.1263+170G>A (GPSM2)	NP_037428.3:n.1263+170G>A
XM_005270787.2:c.1263+170G>A (GPSM2)	XP_005270844.1:n.1263+170G>A
XM_006710589.1:c.1206+170G>A (GPSM2)	XP_006710652.1:n.1206+170G>A
XM_011541301.1:c.1263+170G>A (GPSM2)	XP_011539603.1:n.1263+170G>A
XM_011541302.1:c.1263+170G>A (GPSM2)	XP_011539604.1:n.1263+170G>A
XM_011541303.1:c.1263+170G>A (GPSM2)	XP_011539605.1:n.1263+170G>A
NM_001321038.1:c.1263+170G>A (GPSM2)	NP_001307967.1:n.1263+170G>A
NM_001321039.1:c.1263+170G>A (GPSM2)	NP_001307968.1:n.1263+170G>A
XM_006710589.3:c.1206+170G>A (GPSM2)	XP_006710652.1:n.1206+170G>A
XM_011541301.2:c.1263+170G>A (GPSM2)	XP_011539603.1:n.1263+170G>A
XM_011541302.3:c.1263+170G>A (GPSM2)	XP_011539604.1:n.1263+170G>A
XM_011541303.3:c.1263+170G>A (GPSM2)	XP_011539605.1:n.1263+170G>A
XM_017001097.2:c.1263+170G>A (GPSM2)	XP_016856586.1:n.1263+170G>A
XM_017001098.2:c.1263+170G>A (GPSM2)	XP_016856587.1:n.1263+170G>A
NM_013296.5:c.1263+170G>A (GPSM2) MANE Select	NP_037428.3:n.1263+170G>A
NM_001321038.2:c.1263+170G>A (GPSM2)	NP_001307967.1:n.1263+170G>A
NM_001321039.2:c.1263+170G>A (GPSM2)	NP_001307968.1:n.1263+170G>A
NM_001321039.3:c.1263+170G>A (GPSM2)	NP_001307968.1:n.1263+170G>A