Canonical Allele Identifier: CA3272862

Gene: MAP3K1

Linked Data

• dbSNP Id: rs199923452
• ExAC: 5:56171014 G / A
• gnomAD v2: 5-56171014-G-A
• gnomAD v3: 5-56875187-G-A
• gnomAD v4: 5-56875187-G-A
• MyVariant Identifiers: chr5:g.56171014G>A (hg19) ; chr5:g.56875187G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.56875187G>A , CM000667.2:g.56875187G>A	GRCh38
NC_000005.9:g.56171014G>A , CM000667.1:g.56171014G>A	GRCh37
NC_000005.8:g.56206771G>A	NCBI36
NG_031884.1:g.65115G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000399503.4:c.1842G>A MANE Select	ENSP00000382423.3:p.Pro614=
ENST00000399503.3:c.1842G>A	ENSP00000382423.3:p.Pro614=
NM_005921.1:c.1842G>A	NP_005912.1:p.Pro614=
XM_005248519.3:c.1464G>A	XP_005248576.2:p.Pro488=
XM_011543406.1:c.1587G>A	XP_011541708.1:p.Pro529=
XM_011543407.1:c.1686+2182G>A	XP_011541709.1:n.1686+2182G>A
XM_011543408.1:c.1842G>A	XP_011541710.1:p.Pro614=
XM_017009484.1:c.1431G>A	XP_016864973.1:p.Pro477=
XM_017009485.1:c.1353G>A	XP_016864974.1:p.Pro451=
XR_001742068.2:n.1873G>A
NM_005921.2:c.1842G>A MANE Select	NP_005912.1:p.Pro614=