Canonical Allele Identifier: CA359787014

Gene: MAP3K1

Linked Data

• gnomAD v4: 5-56882094-A-C
• MyVariant Identifiers: chr5:g.56177921A>C (hg19) ; chr5:g.56882094A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.56882094A>C , CM000667.2:g.56882094A>C	GRCh38
NC_000005.9:g.56177921A>C , CM000667.1:g.56177921A>C	GRCh37
NC_000005.8:g.56213678A>C	NCBI36
NG_031884.1:g.72022A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399503.4:c.2894A>C MANE Select	ENSP00000382423.3:p.Gln965Pro
ENST00000399503.3:c.2894A>C	ENSP00000382423.3:p.Gln965Pro
NM_005921.1:c.2894A>C	NP_005912.1:p.Gln965Pro
XM_005248519.3:c.2516A>C	XP_005248576.2:p.Gln839Pro
XM_011543406.1:c.2639A>C	XP_011541708.1:p.Gln880Pro
XM_011543407.1:c.2615A>C	XP_011541709.1:p.Gln872Pro
XM_011543408.1:c.2894A>C	XP_011541710.1:p.Gln965Pro
XM_017009484.1:c.2483A>C	XP_016864973.1:p.Gln828Pro
XM_017009485.1:c.2405A>C	XP_016864974.1:p.Gln802Pro
XR_001742068.2:n.2925A>C
NM_005921.2:c.2894A>C MANE Select	NP_005912.1:p.Gln965Pro