Canonical Allele Identifier: CA3272860

Gene: MAP3K1

Linked Data

• dbSNP Id: rs753677752
• ExAC: 5:56171013 C / A
• gnomAD v2: 5-56171013-C-A
• gnomAD v4: 5-56875186-C-A
• MyVariant Identifiers: chr5:g.56171013C>A (hg19) ; chr5:g.56875186C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.56875186C>A , CM000667.2:g.56875186C>A	GRCh38
NC_000005.9:g.56171013C>A , CM000667.1:g.56171013C>A	GRCh37
NC_000005.8:g.56206770C>A	NCBI36
NG_031884.1:g.65114C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399503.4:c.1841C>A MANE Select	ENSP00000382423.3:p.Pro614Gln
ENST00000399503.3:c.1841C>A	ENSP00000382423.3:p.Pro614Gln
NM_005921.1:c.1841C>A	NP_005912.1:p.Pro614Gln
XM_005248519.3:c.1463C>A	XP_005248576.2:p.Pro488Gln
XM_011543406.1:c.1586C>A	XP_011541708.1:p.Pro529Gln
XM_011543407.1:c.1686+2181C>A	XP_011541709.1:n.1686+2181C>A
XM_011543408.1:c.1841C>A	XP_011541710.1:p.Pro614Gln
XM_017009484.1:c.1430C>A	XP_016864973.1:p.Pro477Gln
XM_017009485.1:c.1352C>A	XP_016864974.1:p.Pro451Gln
XR_001742068.2:n.1872C>A
NM_005921.2:c.1841C>A MANE Select	NP_005912.1:p.Pro614Gln