Canonical Allele Identifier: CA359787871

Gene: MAP3K1

Linked Data

• gnomAD v4: 5-56882399-C-G
• MyVariant Identifiers: chr5:g.56178226C>G (hg19) ; chr5:g.56882399C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.56882399C>G , CM000667.2:g.56882399C>G	GRCh38
NC_000005.9:g.56178226C>G , CM000667.1:g.56178226C>G	GRCh37
NC_000005.8:g.56213983C>G	NCBI36
NG_031884.1:g.72327C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399503.4:c.3199C>G MANE Select	ENSP00000382423.3:p.Pro1067Ala
ENST00000399503.3:c.3199C>G	ENSP00000382423.3:p.Pro1067Ala
NM_005921.1:c.3199C>G	NP_005912.1:p.Pro1067Ala
XM_005248519.3:c.2821C>G	XP_005248576.2:p.Pro941Ala
XM_011543406.1:c.2944C>G	XP_011541708.1:p.Pro982Ala
XM_011543407.1:c.2920C>G	XP_011541709.1:p.Pro974Ala
XM_011543408.1:c.3199C>G	XP_011541710.1:p.Pro1067Ala
XM_017009484.1:c.2788C>G	XP_016864973.1:p.Pro930Ala
XM_017009485.1:c.2710C>G	XP_016864974.1:p.Pro904Ala
XR_001742068.2:n.3230C>G
NM_005921.2:c.3199C>G MANE Select	NP_005912.1:p.Pro1067Ala