Canonical Allele Identifier: CA359787437

Gene: MAP3K1

Linked Data

• MyVariant Identifiers: chr5:g.56178026A>C (hg19) ; chr5:g.56882199A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.56882199A>C , CM000667.2:g.56882199A>C	GRCh38
NC_000005.9:g.56178026A>C , CM000667.1:g.56178026A>C	GRCh37
NC_000005.8:g.56213783A>C	NCBI36
NG_031884.1:g.72127A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399503.4:c.2999A>C MANE Select	ENSP00000382423.3:p.Asp1000Ala
ENST00000399503.3:c.2999A>C	ENSP00000382423.3:p.Asp1000Ala
NM_005921.1:c.2999A>C	NP_005912.1:p.Asp1000Ala
XM_005248519.3:c.2621A>C	XP_005248576.2:p.Asp874Ala
XM_011543406.1:c.2744A>C	XP_011541708.1:p.Asp915Ala
XM_011543407.1:c.2720A>C	XP_011541709.1:p.Asp907Ala
XM_011543408.1:c.2999A>C	XP_011541710.1:p.Asp1000Ala
XM_017009484.1:c.2588A>C	XP_016864973.1:p.Asp863Ala
XM_017009485.1:c.2510A>C	XP_016864974.1:p.Asp837Ala
XR_001742068.2:n.3030A>C
NM_005921.2:c.2999A>C MANE Select	NP_005912.1:p.Asp1000Ala