Canonical Allele Identifier: CA359786166

Gene: MAP3K1

Linked Data

• dbSNP Id: rs1748217955
• gnomAD v4: 5-56881811-T-A
• MyVariant Identifiers: chr5:g.56177638T>A (hg19) ; chr5:g.56881811T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.56881811T>A , CM000667.2:g.56881811T>A	GRCh38
NC_000005.9:g.56177638T>A , CM000667.1:g.56177638T>A	GRCh37
NC_000005.8:g.56213395T>A	NCBI36
NG_031884.1:g.71739T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399503.4:c.2611T>A MANE Select	ENSP00000382423.3:p.Leu871Met
ENST00000399503.3:c.2611T>A	ENSP00000382423.3:p.Leu871Met
NM_005921.1:c.2611T>A	NP_005912.1:p.Leu871Met
XM_005248519.3:c.2233T>A	XP_005248576.2:p.Leu745Met
XM_011543406.1:c.2356T>A	XP_011541708.1:p.Leu786Met
XM_011543407.1:c.2332T>A	XP_011541709.1:p.Leu778Met
XM_011543408.1:c.2611T>A	XP_011541710.1:p.Leu871Met
XM_017009484.1:c.2200T>A	XP_016864973.1:p.Leu734Met
XM_017009485.1:c.2122T>A	XP_016864974.1:p.Leu708Met
XR_001742068.2:n.2642T>A
NM_005921.2:c.2611T>A MANE Select	NP_005912.1:p.Leu871Met