Canonical Allele Identifier: CA359781388

Gene: MAP3K1

Linked Data

• MyVariant Identifiers: chr5:g.56171111G>T (hg19) ; chr5:g.56875284G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.56875284G>T , CM000667.2:g.56875284G>T	GRCh38
NC_000005.9:g.56171111G>T , CM000667.1:g.56171111G>T	GRCh37
NC_000005.8:g.56206868G>T	NCBI36
NG_031884.1:g.65212G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399503.4:c.1939G>T MANE Select	ENSP00000382423.3:p.Val647Phe
ENST00000399503.3:c.1939G>T	ENSP00000382423.3:p.Val647Phe
NM_005921.1:c.1939G>T	NP_005912.1:p.Val647Phe
XM_005248519.3:c.1561G>T	XP_005248576.2:p.Val521Phe
XM_011543406.1:c.1684G>T	XP_011541708.1:p.Val562Phe
XM_011543407.1:c.1686+2279G>T	XP_011541709.1:n.1686+2279G>T
XM_011543408.1:c.1939G>T	XP_011541710.1:p.Val647Phe
XM_017009484.1:c.1528G>T	XP_016864973.1:p.Val510Phe
XM_017009485.1:c.1450G>T	XP_016864974.1:p.Val484Phe
XR_001742068.2:n.1970G>T
NM_005921.2:c.1939G>T MANE Select	NP_005912.1:p.Val647Phe