Canonical Allele Identifier: CA885313710

Gene: GPSM2 AKNAD1

Linked Data

• dbSNP Id: rs1057445821
• gnomAD v3: 1-108877024-C-A
• gnomAD v4: 1-108877024-C-A
• MyVariant Identifiers: chr1:g.109419646C>A (hg19) ; chr1:g.108877024C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.108877024C>A , CM000663.2:g.108877024C>A	GRCh38
NC_000001.10:g.109419646C>A , CM000663.1:g.109419646C>A	GRCh37
NC_000001.9:g.109221169C>A	NCBI36
NG_028108.1:g.5044C>A
NG_028108.2:g.6675C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000264126.9:c.-453C>A (GPSM2) MANE Select	ENSP00000264126.3:n.-453C>A
ENST00000357393.6:c.1-27448G>T (AKNAD1)	ENSP00000349968.6:n.1-27448G>T
ENST00000441735.2:c.-371C>A (GPSM2)	ENSP00000390629.2:n.-371C>A
ENST00000642355.1:c.-453C>A (GPSM2)	ENSP00000496104.1:n.-453C>A
ENST00000643094.1:c.-499C>A (GPSM2)	ENSP00000495317.1:n.-499C>A
ENST00000645164.2:c.-267C>A (GPSM2)	ENSP00000496756.2:n.-267C>A
ENST00000674700.1:c.-206C>A (GPSM2)	ENSP00000501743.1:n.-206C>A
ENST00000674731.1:c.-206C>A (GPSM2)	ENSP00000502401.1:n.-206C>A
ENST00000674914.1:c.-264C>A (GPSM2)	ENSP00000501579.1:n.-264C>A
ENST00000675776.1:n.43C>A (GPSM2)
ENST00000675829.1:n.65C>A (GPSM2)
ENST00000676404.1:c.-206C>A (GPSM2)	ENSP00000502346.1:n.-206C>A
ENST00000264126.7:c.-453C>A (GPSM2)	ENSP00000264126.3:n.-453C>A
ENST00000357393.5:c.115-27448G>T	ENSP00000349968.5:n.115-27448G>T
ENST00000406462.6:c.-453C>A (GPSM2)	ENSP00000385510.1:n.-453C>A
ENST00000435987.5:c.-221C>A (GPSM2)	ENSP00000408664.1:n.-221C>A
NM_013296.4:c.-453C>A (GPSM2)	NP_037428.3:n.-453C>A
XM_005270787.2:c.-221C>A (GPSM2)	XP_005270844.1:n.-221C>A
XM_006710589.1:c.-206C>A (GPSM2)	XP_006710652.1:n.-206C>A
XM_011541301.1:c.-453C>A (GPSM2)	XP_011539603.1:n.-453C>A
XM_011541303.1:c.-453C>A (GPSM2)	XP_011539605.1:n.-453C>A
NM_001321038.1:c.-221C>A (GPSM2)	NP_001307967.1:n.-221C>A
NM_001321039.1:c.-453C>A (GPSM2)	NP_001307968.1:n.-453C>A
XM_006710589.3:c.-206C>A (GPSM2)	XP_006710652.1:n.-206C>A
XM_011541301.2:c.-453C>A (GPSM2)	XP_011539603.1:n.-453C>A
XM_011541302.3:c.-697C>A (GPSM2)	XP_011539604.1:n.-697C>A
XM_011541303.3:c.-453C>A (GPSM2)	XP_011539605.1:n.-453C>A
XM_017001097.2:c.-603C>A (GPSM2)	XP_016856586.1:n.-603C>A
XM_017001098.2:c.-371C>A (GPSM2)	XP_016856587.1:n.-371C>A
NM_013296.5:c.-453C>A (GPSM2) MANE Select	NP_037428.3:n.-453C>A
NM_001321038.2:c.-221C>A (GPSM2)	NP_001307967.1:n.-221C>A
NM_001321039.2:c.-453C>A (GPSM2)	NP_001307968.1:n.-453C>A
NM_001321039.3:c.-453C>A (GPSM2)	NP_001307968.1:n.-453C>A