Canonical Allele Identifier: CA3273024

Gene: MAP3K1

Linked Data

• dbSNP Id: rs762660814
• ExAC: 5:56177614 G / T
• gnomAD v2: 5-56177614-G-T
• gnomAD v3: 5-56881787-G-T
• gnomAD v4: 5-56881787-G-T
• MyVariant Identifiers: chr5:g.56177614G>T (hg19) ; chr5:g.56881787G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.56881787G>T , CM000667.2:g.56881787G>T	GRCh38
NC_000005.9:g.56177614G>T , CM000667.1:g.56177614G>T	GRCh37
NC_000005.8:g.56213371G>T	NCBI36
NG_031884.1:g.71715G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399503.4:c.2587G>T MANE Select	ENSP00000382423.3:p.Val863Leu
ENST00000399503.3:c.2587G>T	ENSP00000382423.3:p.Val863Leu
NM_005921.1:c.2587G>T	NP_005912.1:p.Val863Leu
XM_005248519.3:c.2209G>T	XP_005248576.2:p.Val737Leu
XM_011543406.1:c.2332G>T	XP_011541708.1:p.Val778Leu
XM_011543407.1:c.2308G>T	XP_011541709.1:p.Val770Leu
XM_011543408.1:c.2587G>T	XP_011541710.1:p.Val863Leu
XM_017009484.1:c.2176G>T	XP_016864973.1:p.Val726Leu
XM_017009485.1:c.2098G>T	XP_016864974.1:p.Val700Leu
XR_001742068.2:n.2618G>T
NM_005921.2:c.2587G>T MANE Select	NP_005912.1:p.Val863Leu