Canonical Allele Identifier: CA359780678

Gene: MAP3K1

Linked Data

• dbSNP Id: rs748356370
• gnomAD v3: 5-56875102-G-T
• gnomAD v4: 5-56875102-G-T
• MyVariant Identifiers: chr5:g.56170929G>T (hg19) ; chr5:g.56875102G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.56875102G>T , CM000667.2:g.56875102G>T	GRCh38
NC_000005.9:g.56170929G>T , CM000667.1:g.56170929G>T	GRCh37
NC_000005.8:g.56206686G>T	NCBI36
NG_031884.1:g.65030G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399503.4:c.1757G>T MANE Select	ENSP00000382423.3:p.Arg586Leu
ENST00000399503.3:c.1757G>T	ENSP00000382423.3:p.Arg586Leu
NM_005921.1:c.1757G>T	NP_005912.1:p.Arg586Leu
XM_005248519.3:c.1379G>T	XP_005248576.2:p.Arg460Leu
XM_011543406.1:c.1502G>T	XP_011541708.1:p.Arg501Leu
XM_011543407.1:c.1686+2097G>T	XP_011541709.1:n.1686+2097G>T
XM_011543408.1:c.1757G>T	XP_011541710.1:p.Arg586Leu
XM_017009484.1:c.1346G>T	XP_016864973.1:p.Arg449Leu
XM_017009485.1:c.1268G>T	XP_016864974.1:p.Arg423Leu
XR_001742068.2:n.1788G>T
NM_005921.2:c.1757G>T MANE Select	NP_005912.1:p.Arg586Leu