Canonical Allele Identifier: CA365015183

Gene: MAP3K7

Linked Data

• gnomAD v4: 6-90518562-G-T
• MyVariant Identifiers: chr6:g.91228281G>T (hg19) ; chr6:g.90518562G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.90518562G>T , CM000668.2:g.90518562G>T	GRCh38
NC_000006.11:g.91228281G>T , CM000668.1:g.91228281G>T	GRCh37
NC_000006.10:g.91285002G>T	NCBI36
NG_011966.2:g.73627C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700580.1:c.1444C>A	ENSP00000515074.1:p.Pro482Thr
ENST00000700581.1:c.*666C>A	ENSP00000515075.1:n.*666C>A
ENST00000700582.1:c.*1380C>A	ENSP00000515076.1:n.*1380C>A
ENST00000700583.1:c.*1050C>A	ENSP00000515077.1:n.*1050C>A
ENST00000700584.1:c.*1405C>A	ENSP00000515078.1:n.*1405C>A
ENST00000700585.1:c.485C>A	ENSP00000515079.1:n.485C>A
ENST00000700586.1:n.1195C>A
ENST00000700587.1:c.*1464C>A	ENSP00000515080.1:n.*1464C>A
ENST00000700588.1:n.1510C>A
ENST00000700589.1:c.*848C>A	ENSP00000515081.1:n.*848C>A
ENST00000700591.1:c.1378C>A	ENSP00000515082.1:p.Pro460Thr
ENST00000700592.1:c.1519C>A	ENSP00000515083.1:p.Pro507Thr
ENST00000700593.1:c.1135C>A	ENSP00000515084.1:p.Pro379Thr
ENST00000700594.1:c.*1279C>A	ENSP00000515085.1:n.*1279C>A
ENST00000703099.1:n.991C>A
ENST00000703100.1:c.*858C>A	ENSP00000515168.1:n.*858C>A
ENST00000703101.1:c.289C>A	ENSP00000515169.1:p.Pro97Thr
ENST00000369329.8:c.1525C>A MANE Select	ENSP00000358335.3:p.Pro509Thr
ENST00000369320.1:c.487C>A	ENSP00000358326.1:p.Pro163Thr
ENST00000369325.7:c.1524+696C>A	ENSP00000358331.3:n.1524+696C>A
ENST00000369327.7:c.1443+696C>A	ENSP00000358333.3:n.1443+696C>A
ENST00000369329.7:c.1525C>A	ENSP00000358335.3:p.Pro509Thr
ENST00000369332.7:c.1444C>A	ENSP00000358338.3:p.Pro482Thr
ENST00000479630.1:n.1051C>A
NM_003188.3:c.1444C>A	NP_003179.1:p.Pro482Thr
NM_145331.2:c.1525C>A	NP_663304.1:p.Pro509Thr
NM_145332.2:c.1524+696C>A	NP_663305.1:n.1524+696C>A
NM_145333.2:c.1443+696C>A	NP_663306.1:n.1443+696C>A
XM_006715553.2:c.1135C>A	XP_006715616.1:p.Pro379Thr
XM_006715553.3:c.1135C>A	XP_006715616.1:p.Pro379Thr
XM_017011226.2:c.1054C>A	XP_016866715.1:p.Pro352Thr
NM_145331.3:c.1525C>A MANE Select	NP_663304.1:p.Pro509Thr
NM_003188.4:c.1444C>A	NP_003179.1:p.Pro482Thr
NM_145332.3:c.1524+696C>A	NP_663305.1:n.1524+696C>A
NM_145333.3:c.1443+696C>A	NP_663306.1:n.1443+696C>A