Canonical Allele Identifier: CA375729985
Gene: GRIN1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.137167495C>G , CM000671.2:g.137167495C>G GRCh38
NC_000009.11:g.140061947C>G , CM000671.1:g.140061947C>G GRCh37
NC_000009.10:g.139181768C>G NCBI36
NG_011507.1:g.33339C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000371553.8:c.2764-279C>G ENSP00000360608.3:n.2764-279C>G
ENST00000371560.5:c.2653-279C>G ENSP00000360615.3:n.2653-279C>G
ENST00000371561.8:c.2785C>G MANE Select ENSP00000360616.3:p.Leu929Val
ENST00000371546.8:c.2848C>G ENSP00000360601.4:p.Leu950Val
ENST00000371550.8:c.2674C>G ENSP00000360605.4:p.Leu892Val
ENST00000371553.7:c.2764-279C>G ENSP00000360608.3:n.2764-279C>G
ENST00000371555.8:c.2737C>G ENSP00000360610.4:p.Leu913Val
ENST00000371559.8:c.2590-279C>G ENSP00000360614.4:n.2590-279C>G
ENST00000371560.4:c.2653-279C>G ENSP00000360615.3:n.2653-279C>G
ENST00000371561.7:c.2785C>G ENSP00000360616.3:p.Leu929Val
ENST00000473811.1:n.265C>G
NM_000832.6:c.2590-279C>G NP_000823.4:n.2590-279C>G
NM_001185090.1:c.2764-279C>G NP_001172019.1:n.2764-279C>G
NM_001185091.1:c.2653-279C>G NP_001172020.1:n.2653-279C>G
NM_007327.3:c.2785C>G NP_015566.1:p.Leu929Val
NM_021569.3:c.2674C>G NP_067544.1:p.Leu892Val
XM_005266071.2:c.2701-279C>G XP_005266128.1:n.2701-279C>G
XM_005266072.2:c.2737C>G XP_005266129.1:p.Leu913Val
XM_005266073.3:c.2848C>G XP_005266130.1:p.Leu950Val
XM_005266071.3:c.2701-279C>G XP_005266128.1:n.2701-279C>G
XM_005266072.3:c.2737C>G XP_005266129.1:p.Leu913Val
XM_005266073.4:c.2848C>G XP_005266130.1:p.Leu950Val
NM_007327.4:c.2785C>G MANE Select NP_015566.1:p.Leu929Val
NM_000832.7:c.2590-279C>G NP_000823.4:n.2590-279C>G
NM_001185090.2:c.2764-279C>G NP_001172019.1:n.2764-279C>G
NM_001185091.2:c.2653-279C>G NP_001172020.1:n.2653-279C>G
NM_021569.4:c.2674C>G NP_067544.1:p.Leu892Val