Canonical Allele Identifier: CA359787672
Gene: MAP3K1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2490244
ClinVar RCV Id: RCV003215234
dbSNP Id: rs1408304086
gnomAD v2: 5-56178134-A-T
gnomAD v4: 5-56882307-A-T

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.56882307A>T , CM000667.2:g.56882307A>T GRCh38
NC_000005.9:g.56178134A>T , CM000667.1:g.56178134A>T GRCh37
NC_000005.8:g.56213891A>T NCBI36
NG_031884.1:g.72235A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000399503.4:c.3107A>T MANE Select ENSP00000382423.3:p.Asn1036Ile
ENST00000399503.3:c.3107A>T ENSP00000382423.3:p.Asn1036Ile
NM_005921.1:c.3107A>T NP_005912.1:p.Asn1036Ile
XM_005248519.3:c.2729A>T XP_005248576.2:p.Asn910Ile
XM_011543406.1:c.2852A>T XP_011541708.1:p.Asn951Ile
XM_011543407.1:c.2828A>T XP_011541709.1:p.Asn943Ile
XM_011543408.1:c.3107A>T XP_011541710.1:p.Asn1036Ile
XM_017009484.1:c.2696A>T XP_016864973.1:p.Asn899Ile
XM_017009485.1:c.2618A>T XP_016864974.1:p.Asn873Ile
XR_001742068.2:n.3138A>T
NM_005921.2:c.3107A>T MANE Select NP_005912.1:p.Asn1036Ile