Canonical Allele Identifier: CA341450379

Gene: CLCC1 GPSM2 AKNAD1

Linked Data

• gnomAD v4: 1-108922452-C-A
• MyVariant Identifiers: chr1:g.109465074C>A (hg19) ; chr1:g.108922452C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.108922452C>A , CM000663.2:g.108922452C>A	GRCh38
NC_000001.10:g.109465074C>A , CM000663.1:g.109465074C>A	GRCh37
NC_000001.9:g.109266597C>A	NCBI36
NG_028108.1:g.50472C>A
NG_028108.2:g.52103C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000690509.1:c.*45+12173G>T (CLCC1)	ENSP00000510142.1:n.*45+12173G>T
ENST00000264126.9:c.1476C>A (GPSM2) MANE Select	ENSP00000264126.3:p.Phe492Leu
ENST00000357393.6:c.-1+40909G>T (AKNAD1)	ENSP00000349968.6:n.-1+40909G>T
ENST00000441735.2:c.1476C>A (GPSM2)	ENSP00000390629.2:p.Phe492Leu
ENST00000446797.2:c.1476C>A (GPSM2)	ENSP00000392138.2:p.Phe492Leu
ENST00000642355.1:c.1476C>A (GPSM2)	ENSP00000496104.1:p.Phe492Leu
ENST00000643643.1:c.565C>A (GPSM2)
ENST00000645164.2:c.1476C>A (GPSM2)	ENSP00000496756.2:p.Phe492Leu
ENST00000674700.1:c.1419C>A (GPSM2)	ENSP00000501743.1:p.Phe473Leu
ENST00000674731.1:c.*193C>A (GPSM2)	ENSP00000502401.1:n.*193C>A
ENST00000674914.1:c.1527C>A (GPSM2)	ENSP00000501579.1:p.Phe509Leu
ENST00000675086.1:c.1299C>A (GPSM2)	ENSP00000502476.1:p.Phe433Leu
ENST00000675087.1:c.1527C>A (GPSM2)	ENSP00000502020.1:p.Phe509Leu
ENST00000675740.1:n.1216-1548C>A (GPSM2)
ENST00000676184.1:c.1476C>A (GPSM2)	ENSP00000502178.1:p.Phe492Leu
ENST00000676404.1:c.*382C>A (GPSM2)	ENSP00000502346.1:n.*382C>A
ENST00000264126.7:c.1476C>A (GPSM2)	ENSP00000264126.3:p.Phe492Leu
ENST00000357393.5:c.114+40909G>T	ENSP00000349968.5:n.114+40909G>T
ENST00000406462.6:c.1476C>A (GPSM2)	ENSP00000385510.1:p.Phe492Leu
ENST00000441735.1:c.245C>A (GPSM2)
NM_013296.4:c.1476C>A (GPSM2)	NP_037428.3:p.Phe492Leu
XM_005270787.2:c.1476C>A (GPSM2)	XP_005270844.1:p.Phe492Leu
XM_006710589.1:c.1419C>A (GPSM2)	XP_006710652.1:p.Phe473Leu
XM_011541301.1:c.1476C>A (GPSM2)	XP_011539603.1:p.Phe492Leu
XM_011541302.1:c.1476C>A (GPSM2)	XP_011539604.1:p.Phe492Leu
NM_001321038.1:c.1476C>A (GPSM2)	NP_001307967.1:p.Phe492Leu
NM_001321039.1:c.1476C>A (GPSM2)	NP_001307968.1:p.Phe492Leu
XM_006710589.3:c.1419C>A (GPSM2)	XP_006710652.1:p.Phe473Leu
XM_011541301.2:c.1476C>A (GPSM2)	XP_011539603.1:p.Phe492Leu
XM_011541302.3:c.1476C>A (GPSM2)	XP_011539604.1:p.Phe492Leu
XM_017001097.2:c.1476C>A (GPSM2)	XP_016856586.1:p.Phe492Leu
XM_017001098.2:c.1476C>A (GPSM2)	XP_016856587.1:p.Phe492Leu
NM_013296.5:c.1476C>A (GPSM2) MANE Select	NP_037428.3:p.Phe492Leu
NM_001321038.2:c.1476C>A (GPSM2)	NP_001307967.1:p.Phe492Leu
NM_001321039.2:c.1476C>A (GPSM2)	NP_001307968.1:p.Phe492Leu
NM_001321039.3:c.1476C>A (GPSM2)	NP_001307968.1:p.Phe492Leu