Canonical Allele Identifier: CA359802714

Gene: MAP3K1

Linked Data

• MyVariant Identifiers: chr5:g.56155738T>C (hg19) ; chr5:g.56859911T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.56859911T>C , CM000667.2:g.56859911T>C	GRCh38
NC_000005.9:g.56155738T>C , CM000667.1:g.56155738T>C	GRCh37
NC_000005.8:g.56191495T>C	NCBI36
NG_031884.1:g.49839T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399503.4:c.830T>C MANE Select	ENSP00000382423.3:p.Val277Ala
ENST00000399503.3:c.830T>C	ENSP00000382423.3:p.Val277Ala
NM_005921.1:c.830T>C	NP_005912.1:p.Val277Ala
XM_005248519.3:c.452T>C	XP_005248576.2:p.Val151Ala
XM_011543406.1:c.575T>C	XP_011541708.1:p.Val192Ala
XM_011543407.1:c.830T>C	XP_011541709.1:p.Val277Ala
XM_011543408.1:c.830T>C	XP_011541710.1:p.Val277Ala
XM_017009484.1:c.419T>C	XP_016864973.1:p.Val140Ala
XM_017009485.1:c.341T>C	XP_016864974.1:p.Val114Ala
XR_001742068.2:n.861T>C
NM_005921.2:c.830T>C MANE Select	NP_005912.1:p.Val277Ala