Canonical Allele Identifier: CA10607280

Gene: GPSM2 AKNAD1

Linked Data

• ClinVar Variation Id: 291695
• ClinVar RCV Id: RCV000331669
• dbSNP Id: rs886045023
• MyVariant Identifiers: chr1:g.109419730G>A (hg19) ; chr1:g.108877108G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.108877108G>A , CM000663.2:g.108877108G>A	GRCh38
NC_000001.10:g.109419730G>A , CM000663.1:g.109419730G>A	GRCh37
NC_000001.9:g.109221253G>A	NCBI36
NG_028108.1:g.5128G>A
NG_028108.2:g.6759G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000264126.9:c.-369G>A (GPSM2) MANE Select	ENSP00000264126.3:n.-369G>A
ENST00000357393.6:c.1-27532C>T (AKNAD1)	ENSP00000349968.6:n.1-27532C>T
ENST00000441735.2:c.-287G>A (GPSM2)	ENSP00000390629.2:n.-287G>A
ENST00000642355.1:c.-369G>A (GPSM2)	ENSP00000496104.1:n.-369G>A
ENST00000643094.1:c.-415G>A (GPSM2)	ENSP00000495317.1:n.-415G>A
ENST00000645164.2:c.-183G>A (GPSM2)	ENSP00000496756.2:n.-183G>A
ENST00000674700.1:c.-122G>A (GPSM2)	ENSP00000501743.1:n.-122G>A
ENST00000674731.1:c.-122G>A (GPSM2)	ENSP00000502401.1:n.-122G>A
ENST00000674914.1:c.-180G>A (GPSM2)	ENSP00000501579.1:n.-180G>A
ENST00000675776.1:n.127G>A (GPSM2)
ENST00000675829.1:n.149G>A (GPSM2)
ENST00000676404.1:c.-122G>A (GPSM2)	ENSP00000502346.1:n.-122G>A
ENST00000264126.7:c.-369G>A (GPSM2)	ENSP00000264126.3:n.-369G>A
ENST00000357393.5:c.115-27532C>T	ENSP00000349968.5:n.115-27532C>T
ENST00000406462.6:c.-369G>A (GPSM2)	ENSP00000385510.1:n.-369G>A
ENST00000435987.5:c.-137G>A (GPSM2)	ENSP00000408664.1:n.-137G>A
NM_013296.4:c.-369G>A (GPSM2)	NP_037428.3:n.-369G>A
XM_005270787.2:c.-137G>A (GPSM2)	XP_005270844.1:n.-137G>A
XM_006710589.1:c.-122G>A (GPSM2)	XP_006710652.1:n.-122G>A
XM_011541301.1:c.-369G>A (GPSM2)	XP_011539603.1:n.-369G>A
XM_011541303.1:c.-369G>A (GPSM2)	XP_011539605.1:n.-369G>A
NM_001321038.1:c.-137G>A (GPSM2)	NP_001307967.1:n.-137G>A
NM_001321039.1:c.-369G>A (GPSM2)	NP_001307968.1:n.-369G>A
XM_006710589.3:c.-122G>A (GPSM2)	XP_006710652.1:n.-122G>A
XM_011541301.2:c.-369G>A (GPSM2)	XP_011539603.1:n.-369G>A
XM_011541302.3:c.-613G>A (GPSM2)	XP_011539604.1:n.-613G>A
XM_011541303.3:c.-369G>A (GPSM2)	XP_011539605.1:n.-369G>A
XM_017001097.2:c.-519G>A (GPSM2)	XP_016856586.1:n.-519G>A
XM_017001098.2:c.-287G>A (GPSM2)	XP_016856587.1:n.-287G>A
NM_013296.5:c.-369G>A (GPSM2) MANE Select	NP_037428.3:n.-369G>A
NM_001321038.2:c.-137G>A (GPSM2)	NP_001307967.1:n.-137G>A
NM_001321039.2:c.-369G>A (GPSM2)	NP_001307968.1:n.-369G>A
NM_001321039.3:c.-369G>A (GPSM2)	NP_001307968.1:n.-369G>A