Canonical Allele Identifier: CA444398954

Gene: MAP3K1

Linked Data

• MyVariant Identifiers: chr5:g.56170960G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.56875133G>C , CM000667.2:g.56875133G>C	GRCh38
NC_000005.9:g.56170960G>C , CM000667.1:g.56170960G>C	GRCh37
NC_000005.8:g.56206717G>C	NCBI36
NG_031884.1:g.65061G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399503.4:c.1788G>C MANE Select	ENSP00000382423.3:p.Leu596=
ENST00000399503.3:c.1788G>C	ENSP00000382423.3:p.Leu596=
NM_005921.1:c.1788G>C	NP_005912.1:p.Leu596=
XM_005248519.3:c.1410G>C	XP_005248576.2:p.Leu470=
XM_011543406.1:c.1533G>C	XP_011541708.1:p.Leu511=
XM_011543407.1:c.1686+2128G>C	XP_011541709.1:n.1686+2128G>C
XM_011543408.1:c.1788G>C	XP_011541710.1:p.Leu596=
XM_017009484.1:c.1377G>C	XP_016864973.1:p.Leu459=
XM_017009485.1:c.1299G>C	XP_016864974.1:p.Leu433=
XR_001742068.2:n.1819G>C
NM_005921.2:c.1788G>C MANE Select	NP_005912.1:p.Leu596=