Canonical Allele Identifier: CA359786070

Gene: MAP3K1

Linked Data

• gnomAD v4: 5-56881767-T-G
• MyVariant Identifiers: chr5:g.56177594T>G (hg19) ; chr5:g.56881767T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.56881767T>G , CM000667.2:g.56881767T>G	GRCh38
NC_000005.9:g.56177594T>G , CM000667.1:g.56177594T>G	GRCh37
NC_000005.8:g.56213351T>G	NCBI36
NG_031884.1:g.71695T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399503.4:c.2567T>G MANE Select	ENSP00000382423.3:p.Leu856Trp
ENST00000399503.3:c.2567T>G	ENSP00000382423.3:p.Leu856Trp
NM_005921.1:c.2567T>G	NP_005912.1:p.Leu856Trp
XM_005248519.3:c.2189T>G	XP_005248576.2:p.Leu730Trp
XM_011543406.1:c.2312T>G	XP_011541708.1:p.Leu771Trp
XM_011543407.1:c.2288T>G	XP_011541709.1:p.Leu763Trp
XM_011543408.1:c.2567T>G	XP_011541710.1:p.Leu856Trp
XM_017009484.1:c.2156T>G	XP_016864973.1:p.Leu719Trp
XM_017009485.1:c.2078T>G	XP_016864974.1:p.Leu693Trp
XR_001742068.2:n.2598T>G
NM_005921.2:c.2567T>G MANE Select	NP_005912.1:p.Leu856Trp