Canonical Allele Identifier: CA359787728

Gene: MAP3K1

Linked Data

• ClinVar Variation Id: 2132324
• ClinVar RCV Id: RCV003063770
• dbSNP Id: rs2111945946
• MyVariant Identifiers: chr5:g.56178160G>C (hg19) ; chr5:g.56882333G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.56882333G>C , CM000667.2:g.56882333G>C	GRCh38
NC_000005.9:g.56178160G>C , CM000667.1:g.56178160G>C	GRCh37
NC_000005.8:g.56213917G>C	NCBI36
NG_031884.1:g.72261G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399503.4:c.3133G>C MANE Select	ENSP00000382423.3:p.Val1045Leu
ENST00000399503.3:c.3133G>C	ENSP00000382423.3:p.Val1045Leu
NM_005921.1:c.3133G>C	NP_005912.1:p.Val1045Leu
XM_005248519.3:c.2755G>C	XP_005248576.2:p.Val919Leu
XM_011543406.1:c.2878G>C	XP_011541708.1:p.Val960Leu
XM_011543407.1:c.2854G>C	XP_011541709.1:p.Val952Leu
XM_011543408.1:c.3133G>C	XP_011541710.1:p.Val1045Leu
XM_017009484.1:c.2722G>C	XP_016864973.1:p.Val908Leu
XM_017009485.1:c.2644G>C	XP_016864974.1:p.Val882Leu
XR_001742068.2:n.3164G>C
NM_005921.2:c.3133G>C MANE Select	NP_005912.1:p.Val1045Leu