Canonical Allele Identifier: CA359786178

Gene: MAP3K1

Linked Data

• dbSNP Id: rs149242419
• gnomAD v2: 5-56177644-G-T
• gnomAD v4: 5-56881817-G-T
• MyVariant Identifiers: chr5:g.56177644G>T (hg19) ; chr5:g.56881817G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.56881817G>T , CM000667.2:g.56881817G>T	GRCh38
NC_000005.9:g.56177644G>T , CM000667.1:g.56177644G>T	GRCh37
NC_000005.8:g.56213401G>T	NCBI36
NG_031884.1:g.71745G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399503.4:c.2617G>T MANE Select	ENSP00000382423.3:p.Val873Leu
ENST00000399503.3:c.2617G>T	ENSP00000382423.3:p.Val873Leu
NM_005921.1:c.2617G>T	NP_005912.1:p.Val873Leu
XM_005248519.3:c.2239G>T	XP_005248576.2:p.Val747Leu
XM_011543406.1:c.2362G>T	XP_011541708.1:p.Val788Leu
XM_011543407.1:c.2338G>T	XP_011541709.1:p.Val780Leu
XM_011543408.1:c.2617G>T	XP_011541710.1:p.Val873Leu
XM_017009484.1:c.2206G>T	XP_016864973.1:p.Val736Leu
XM_017009485.1:c.2128G>T	XP_016864974.1:p.Val710Leu
XR_001742068.2:n.2648G>T
NM_005921.2:c.2617G>T MANE Select	NP_005912.1:p.Val873Leu