Canonical Allele Identifier: CA359781345

Gene: MAP3K1

Linked Data

• dbSNP Id: rs866945834
• gnomAD v2: 5-56171097-T-C
• gnomAD v4: 5-56875270-T-C
• MyVariant Identifiers: chr5:g.56171097T>C (hg19) ; chr5:g.56875270T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.56875270T>C , CM000667.2:g.56875270T>C	GRCh38
NC_000005.9:g.56171097T>C , CM000667.1:g.56171097T>C	GRCh37
NC_000005.8:g.56206854T>C	NCBI36
NG_031884.1:g.65198T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000399503.4:c.1925T>C MANE Select	ENSP00000382423.3:p.Val642Ala
ENST00000399503.3:c.1925T>C	ENSP00000382423.3:p.Val642Ala
NM_005921.1:c.1925T>C	NP_005912.1:p.Val642Ala
XM_005248519.3:c.1547T>C	XP_005248576.2:p.Val516Ala
XM_011543406.1:c.1670T>C	XP_011541708.1:p.Val557Ala
XM_011543407.1:c.1686+2265T>C	XP_011541709.1:n.1686+2265T>C
XM_011543408.1:c.1925T>C	XP_011541710.1:p.Val642Ala
XM_017009484.1:c.1514T>C	XP_016864973.1:p.Val505Ala
XM_017009485.1:c.1436T>C	XP_016864974.1:p.Val479Ala
XR_001742068.2:n.1956T>C
NM_005921.2:c.1925T>C MANE Select	NP_005912.1:p.Val642Ala