Canonical Allele Identifier: CA359802712

Gene: MAP3K1

Linked Data

• gnomAD v4: 5-56859910-G-T
• MyVariant Identifiers: chr5:g.56155737G>T (hg19) ; chr5:g.56859910G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.56859910G>T , CM000667.2:g.56859910G>T	GRCh38
NC_000005.9:g.56155737G>T , CM000667.1:g.56155737G>T	GRCh37
NC_000005.8:g.56191494G>T	NCBI36
NG_031884.1:g.49838G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399503.4:c.829G>T MANE Select	ENSP00000382423.3:p.Val277Leu
ENST00000399503.3:c.829G>T	ENSP00000382423.3:p.Val277Leu
NM_005921.1:c.829G>T	NP_005912.1:p.Val277Leu
XM_005248519.3:c.451G>T	XP_005248576.2:p.Val151Leu
XM_011543406.1:c.574G>T	XP_011541708.1:p.Val192Leu
XM_011543407.1:c.829G>T	XP_011541709.1:p.Val277Leu
XM_011543408.1:c.829G>T	XP_011541710.1:p.Val277Leu
XM_017009484.1:c.418G>T	XP_016864973.1:p.Val140Leu
XM_017009485.1:c.340G>T	XP_016864974.1:p.Val114Leu
XR_001742068.2:n.860G>T
NM_005921.2:c.829G>T MANE Select	NP_005912.1:p.Val277Leu