Canonical Allele Identifier: CA359781381

Gene: MAP3K1

Linked Data

• gnomAD v4: 5-56875282-C-T
• MyVariant Identifiers: chr5:g.56171109C>T (hg19) ; chr5:g.56875282C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.56875282C>T , CM000667.2:g.56875282C>T	GRCh38
NC_000005.9:g.56171109C>T , CM000667.1:g.56171109C>T	GRCh37
NC_000005.8:g.56206866C>T	NCBI36
NG_031884.1:g.65210C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399503.4:c.1937C>T MANE Select	ENSP00000382423.3:p.Pro646Leu
ENST00000399503.3:c.1937C>T	ENSP00000382423.3:p.Pro646Leu
NM_005921.1:c.1937C>T	NP_005912.1:p.Pro646Leu
XM_005248519.3:c.1559C>T	XP_005248576.2:p.Pro520Leu
XM_011543406.1:c.1682C>T	XP_011541708.1:p.Pro561Leu
XM_011543407.1:c.1686+2277C>T	XP_011541709.1:n.1686+2277C>T
XM_011543408.1:c.1937C>T	XP_011541710.1:p.Pro646Leu
XM_017009484.1:c.1526C>T	XP_016864973.1:p.Pro509Leu
XM_017009485.1:c.1448C>T	XP_016864974.1:p.Pro483Leu
XR_001742068.2:n.1968C>T
NM_005921.2:c.1937C>T MANE Select	NP_005912.1:p.Pro646Leu