Canonical Allele Identifier: CA10588006

Gene: MAP3K7

Linked Data

• ClinVar Variation Id: 264698
• ClinVar RCV Id: RCV000254565 ; RCV001530168
• dbSNP Id: rs886039230
• gnomAD v4: 6-90518552-G-A
• MyVariant Identifiers: chr6:g.91228271G>A (hg19) ; chr6:g.90518552G>A (hg38)
• PubMed: PMID:25899317 ; PMID:27426733

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.90518552G>A , CM000668.2:g.90518552G>A	GRCh38
NC_000006.11:g.91228271G>A , CM000668.1:g.91228271G>A	GRCh37
NC_000006.10:g.91284992G>A	NCBI36
NG_011966.2:g.73637C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000700580.1:c.1454C>T	ENSP00000515074.1:p.Pro485Leu
ENST00000700581.1:c.*676C>T	ENSP00000515075.1:n.*676C>T
ENST00000700582.1:c.*1390C>T	ENSP00000515076.1:n.*1390C>T
ENST00000700583.1:c.*1060C>T	ENSP00000515077.1:n.*1060C>T
ENST00000700584.1:c.*1415C>T	ENSP00000515078.1:n.*1415C>T
ENST00000700585.1:c.495C>T	ENSP00000515079.1:n.495C>T
ENST00000700586.1:n.1205C>T
ENST00000700587.1:c.*1474C>T	ENSP00000515080.1:n.*1474C>T
ENST00000700588.1:n.1520C>T
ENST00000700589.1:c.*858C>T	ENSP00000515081.1:n.*858C>T
ENST00000700591.1:c.1388C>T	ENSP00000515082.1:p.Pro463Leu
ENST00000700592.1:c.1529C>T	ENSP00000515083.1:p.Pro510Leu
ENST00000700593.1:c.1145C>T	ENSP00000515084.1:p.Pro382Leu
ENST00000700594.1:c.*1289C>T	ENSP00000515085.1:n.*1289C>T
ENST00000703099.1:n.1001C>T
ENST00000703100.1:c.*868C>T	ENSP00000515168.1:n.*868C>T
ENST00000703101.1:c.299C>T	ENSP00000515169.1:p.Pro100Leu
ENST00000369329.8:c.1535C>T MANE Select	ENSP00000358335.3:p.Pro512Leu
ENST00000369320.1:c.497C>T	ENSP00000358326.1:p.Pro166Leu
ENST00000369325.7:c.1524+706C>T	ENSP00000358331.3:n.1524+706C>T
ENST00000369327.7:c.1443+706C>T	ENSP00000358333.3:n.1443+706C>T
ENST00000369329.7:c.1535C>T	ENSP00000358335.3:p.Pro512Leu
ENST00000369332.7:c.1454C>T	ENSP00000358338.3:p.Pro485Leu
ENST00000479630.1:n.1061C>T
NM_003188.3:c.1454C>T	NP_003179.1:p.Pro485Leu
NM_145331.2:c.1535C>T	NP_663304.1:p.Pro512Leu
NM_145332.2:c.1524+706C>T	NP_663305.1:n.1524+706C>T
NM_145333.2:c.1443+706C>T	NP_663306.1:n.1443+706C>T
XM_006715553.2:c.1145C>T	XP_006715616.1:p.Pro382Leu
XM_006715553.3:c.1145C>T	XP_006715616.1:p.Pro382Leu
XM_017011226.2:c.1064C>T	XP_016866715.1:p.Pro355Leu
NM_145331.3:c.1535C>T MANE Select	NP_663304.1:p.Pro512Leu
NM_003188.4:c.1454C>T	NP_003179.1:p.Pro485Leu
NM_145332.3:c.1524+706C>T	NP_663305.1:n.1524+706C>T
NM_145333.3:c.1443+706C>T	NP_663306.1:n.1443+706C>T