Canonical Allele Identifier: CA467777383

Gene: GRIN1

Linked Data

• ClinVar Variation Id: 1583359
• ClinVar RCV Id: RCV002093595
• dbSNP Id: rs2131301316
• gnomAD v4: 9-137163251-C-T
• MyVariant Identifiers: chr9:g.140057703C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.137163251C>T , CM000671.2:g.137163251C>T	GRCh38
NC_000009.11:g.140057703C>T , CM000671.1:g.140057703C>T	GRCh37
NC_000009.10:g.139177524C>T	NCBI36
NG_011507.1:g.29095C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000371553.8:c.2317C>T	ENSP00000360608.3:p.Leu773=
ENST00000371560.5:c.2317C>T	ENSP00000360615.3:p.Leu773=
ENST00000371561.8:c.2254C>T MANE Select	ENSP00000360616.3:p.Leu752=
ENST00000675295.1:n.1684C>T
ENST00000350902.9:c.*1229C>T	ENSP00000316915.9:n.*1229C>T
ENST00000371546.8:c.2317C>T	ENSP00000360601.4:p.Leu773=
ENST00000371550.8:c.2254C>T	ENSP00000360605.4:p.Leu752=
ENST00000371553.7:c.2317C>T	ENSP00000360608.3:p.Leu773=
ENST00000371555.8:c.2317C>T	ENSP00000360610.4:p.Leu773=
ENST00000371559.8:c.2254C>T	ENSP00000360614.4:p.Leu752=
ENST00000371560.4:c.2317C>T	ENSP00000360615.3:p.Leu773=
ENST00000371561.7:c.2254C>T	ENSP00000360616.3:p.Leu752=
ENST00000460273.1:n.275C>T
ENST00000471122.5:n.2331C>T
NM_000832.6:c.2254C>T	NP_000823.4:p.Leu752=
NM_001185090.1:c.2317C>T	NP_001172019.1:p.Leu773=
NM_001185091.1:c.2317C>T	NP_001172020.1:p.Leu773=
NM_007327.3:c.2254C>T	NP_015566.1:p.Leu752=
NM_021569.3:c.2254C>T	NP_067544.1:p.Leu752=
XM_005266071.2:c.2254C>T	XP_005266128.1:p.Leu752=
XM_005266072.2:c.2317C>T	XP_005266129.1:p.Leu773=
XM_005266073.3:c.2317C>T	XP_005266130.1:p.Leu773=
XM_011518583.1:c.2317C>T	XP_011516885.1:p.Leu773=
XM_005266071.3:c.2254C>T	XP_005266128.1:p.Leu752=
XM_005266072.3:c.2317C>T	XP_005266129.1:p.Leu773=
XM_005266073.4:c.2317C>T	XP_005266130.1:p.Leu773=
XM_011518583.2:c.2317C>T	XP_011516885.1:p.Leu773=
NM_007327.4:c.2254C>T MANE Select	NP_015566.1:p.Leu752=
NM_000832.7:c.2254C>T	NP_000823.4:p.Leu752=
NM_001185090.2:c.2317C>T	NP_001172019.1:p.Leu773=
NM_001185091.2:c.2317C>T	NP_001172020.1:p.Leu773=
NM_021569.4:c.2254C>T	NP_067544.1:p.Leu752=