Canonical Allele Identifier: CA10607436

Gene: GPSM2 AKNAD1

Linked Data

• ClinVar Variation Id: 291696
• ClinVar RCV Id: RCV000388558
• dbSNP Id: rs564045797
• gnomAD v2: 1-109419742-C-T
• gnomAD v3: 1-108877120-C-T
• gnomAD v4: 1-108877120-C-T
• MyVariant Identifiers: chr1:g.109419742C>T (hg19) ; chr1:g.108877120C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.108877120C>T , CM000663.2:g.108877120C>T	GRCh38
NC_000001.10:g.109419742C>T , CM000663.1:g.109419742C>T	GRCh37
NC_000001.9:g.109221265C>T	NCBI36
NG_028108.1:g.5140C>T
NG_028108.2:g.6771C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000264126.9:c.-357C>T (GPSM2) MANE Select	ENSP00000264126.3:n.-357C>T
ENST00000357393.6:c.1-27544G>A (AKNAD1)	ENSP00000349968.6:n.1-27544G>A
ENST00000441735.2:c.-275C>T (GPSM2)	ENSP00000390629.2:n.-275C>T
ENST00000642355.1:c.-357C>T (GPSM2)	ENSP00000496104.1:n.-357C>T
ENST00000643094.1:c.-403C>T (GPSM2)	ENSP00000495317.1:n.-403C>T
ENST00000645164.2:c.-171C>T (GPSM2)	ENSP00000496756.2:n.-171C>T
ENST00000674700.1:c.-110C>T (GPSM2)	ENSP00000501743.1:n.-110C>T
ENST00000674731.1:c.-110C>T (GPSM2)	ENSP00000502401.1:n.-110C>T
ENST00000674914.1:c.-168C>T (GPSM2)	ENSP00000501579.1:n.-168C>T
ENST00000675776.1:n.139C>T (GPSM2)
ENST00000675829.1:n.161C>T (GPSM2)
ENST00000676404.1:c.-110C>T (GPSM2)	ENSP00000502346.1:n.-110C>T
ENST00000264126.7:c.-357C>T (GPSM2)	ENSP00000264126.3:n.-357C>T
ENST00000357393.5:c.115-27544G>A	ENSP00000349968.5:n.115-27544G>A
ENST00000406462.6:c.-357C>T (GPSM2)	ENSP00000385510.1:n.-357C>T
ENST00000435987.5:c.-125C>T (GPSM2)	ENSP00000408664.1:n.-125C>T
NM_013296.4:c.-357C>T (GPSM2)	NP_037428.3:n.-357C>T
XM_005270787.2:c.-125C>T (GPSM2)	XP_005270844.1:n.-125C>T
XM_006710589.1:c.-110C>T (GPSM2)	XP_006710652.1:n.-110C>T
XM_011541301.1:c.-357C>T (GPSM2)	XP_011539603.1:n.-357C>T
XM_011541303.1:c.-357C>T (GPSM2)	XP_011539605.1:n.-357C>T
NM_001321038.1:c.-125C>T (GPSM2)	NP_001307967.1:n.-125C>T
NM_001321039.1:c.-357C>T (GPSM2)	NP_001307968.1:n.-357C>T
XM_006710589.3:c.-110C>T (GPSM2)	XP_006710652.1:n.-110C>T
XM_011541301.2:c.-357C>T (GPSM2)	XP_011539603.1:n.-357C>T
XM_011541302.3:c.-601C>T (GPSM2)	XP_011539604.1:n.-601C>T
XM_011541303.3:c.-357C>T (GPSM2)	XP_011539605.1:n.-357C>T
XM_017001097.2:c.-507C>T (GPSM2)	XP_016856586.1:n.-507C>T
XM_017001098.2:c.-275C>T (GPSM2)	XP_016856587.1:n.-275C>T
NM_013296.5:c.-357C>T (GPSM2) MANE Select	NP_037428.3:n.-357C>T
NM_001321038.2:c.-125C>T (GPSM2)	NP_001307967.1:n.-125C>T
NM_001321039.2:c.-357C>T (GPSM2)	NP_001307968.1:n.-357C>T
NM_001321039.3:c.-357C>T (GPSM2)	NP_001307968.1:n.-357C>T