Canonical Allele Identifier: CA359787089

Gene: MAP3K1

Linked Data

• dbSNP Id: rs1275411238
• gnomAD v2: 5-56177936-C-T
• gnomAD v4: 5-56882109-C-T
• MyVariant Identifiers: chr5:g.56177936C>T (hg19) ; chr5:g.56882109C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.56882109C>T , CM000667.2:g.56882109C>T	GRCh38
NC_000005.9:g.56177936C>T , CM000667.1:g.56177936C>T	GRCh37
NC_000005.8:g.56213693C>T	NCBI36
NG_031884.1:g.72037C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399503.4:c.2909C>T MANE Select	ENSP00000382423.3:p.Ser970Phe
ENST00000399503.3:c.2909C>T	ENSP00000382423.3:p.Ser970Phe
NM_005921.1:c.2909C>T	NP_005912.1:p.Ser970Phe
XM_005248519.3:c.2531C>T	XP_005248576.2:p.Ser844Phe
XM_011543406.1:c.2654C>T	XP_011541708.1:p.Ser885Phe
XM_011543407.1:c.2630C>T	XP_011541709.1:p.Ser877Phe
XM_011543408.1:c.2909C>T	XP_011541710.1:p.Ser970Phe
XM_017009484.1:c.2498C>T	XP_016864973.1:p.Ser833Phe
XM_017009485.1:c.2420C>T	XP_016864974.1:p.Ser807Phe
XR_001742068.2:n.2940C>T
NM_005921.2:c.2909C>T MANE Select	NP_005912.1:p.Ser970Phe