Canonical Allele Identifier: CA375729541
Gene: GRIN1 HGNC NCBI
MyVariant.info:
Revel Score:

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.137167415C>A , CM000671.2:g.137167415C>A GRCh38
NC_000009.11:g.140061867C>A , CM000671.1:g.140061867C>A GRCh37
NC_000009.10:g.139181688C>A NCBI36
NG_011507.1:g.33259C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000371553.8:c.2764-359C>A ENSP00000360608.3:n.2764-359C>A
ENST00000371560.5:c.2653-359C>A ENSP00000360615.3:n.2653-359C>A
ENST00000371561.8:c.2705C>A MANE Select ENSP00000360616.3:p.Thr902Asn
ENST00000371546.8:c.2768C>A ENSP00000360601.4:p.Thr923Asn
ENST00000371550.8:c.2594C>A ENSP00000360605.4:p.Thr865Asn
ENST00000371553.7:c.2764-359C>A ENSP00000360608.3:n.2764-359C>A
ENST00000371555.8:c.2657C>A ENSP00000360610.4:p.Thr886Asn
ENST00000371559.8:c.2590-359C>A ENSP00000360614.4:n.2590-359C>A
ENST00000371560.4:c.2653-359C>A ENSP00000360615.3:n.2653-359C>A
ENST00000371561.7:c.2705C>A ENSP00000360616.3:p.Thr902Asn
ENST00000473811.1:n.185C>A
NM_000832.6:c.2590-359C>A NP_000823.4:n.2590-359C>A
NM_001185090.1:c.2764-359C>A NP_001172019.1:n.2764-359C>A
NM_001185091.1:c.2653-359C>A NP_001172020.1:n.2653-359C>A
NM_007327.3:c.2705C>A NP_015566.1:p.Thr902Asn
NM_021569.3:c.2594C>A NP_067544.1:p.Thr865Asn
XM_005266071.2:c.2701-359C>A XP_005266128.1:n.2701-359C>A
XM_005266072.2:c.2657C>A XP_005266129.1:p.Thr886Asn
XM_005266073.3:c.2768C>A XP_005266130.1:p.Thr923Asn
XM_005266071.3:c.2701-359C>A XP_005266128.1:n.2701-359C>A
XM_005266072.3:c.2657C>A XP_005266129.1:p.Thr886Asn
XM_005266073.4:c.2768C>A XP_005266130.1:p.Thr923Asn
NM_007327.4:c.2705C>A MANE Select NP_015566.1:p.Thr902Asn
NM_000832.7:c.2590-359C>A NP_000823.4:n.2590-359C>A
NM_001185090.2:c.2764-359C>A NP_001172019.1:n.2764-359C>A
NM_001185091.2:c.2653-359C>A NP_001172020.1:n.2653-359C>A
NM_021569.4:c.2594C>A NP_067544.1:p.Thr865Asn