Canonical Allele Identifier: CA346205356

Gene: MPV17

Linked Data

• MyVariant Identifiers: chr2:g.27532800A>T (hg19) ; chr2:g.27309932A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27309932A>T , CM000664.2:g.27309932A>T	GRCh38
NC_000002.11:g.27532800A>T , CM000664.1:g.27532800A>T	GRCh37
NC_000002.10:g.27386304A>T	NCBI36
NG_008075.1:g.17632T>A
NG_033055.1:g.3331T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380044.6:c.511T>A MANE Select	ENSP00000369383.1:p.Trp171Arg
ENST00000233545.6:c.511T>A	ENSP00000233545.2:p.Trp171Arg
ENST00000357186.10:c.343T>A	ENSP00000349713.6:p.Trp115Arg
ENST00000380044.5:c.511T>A	ENSP00000369383.1:p.Trp171Arg
ENST00000402310.5:c.458T>A	ENSP00000383955.1:p.Leu153Gln
ENST00000402722.5:c.*90T>A	ENSP00000386000.1:n.*90T>A
ENST00000405076.5:c.322T>A	ENSP00000385175.1:p.Trp108Arg
ENST00000405983.5:c.556T>A	ENSP00000384586.1:p.Trp186Arg
ENST00000415514.5:c.*312T>A	ENSP00000388043.1:n.*312T>A
ENST00000426513.6:c.*176T>A	ENSP00000403824.2:n.*176T>A
ENST00000430991.5:c.345T>A
ENST00000620797.4:n.184T>A
ENST00000621183.4:n.814T>A
NM_002437.4:c.511T>A	NP_002428.1:p.Trp171Arg
XM_005264326.2:c.511T>A	XP_005264383.1:p.Trp171Arg
XM_005264327.2:c.352T>A	XP_005264384.1:p.Trp118Arg
XM_006712021.2:c.463T>A	XP_006712084.1:p.Trp155Arg
XM_005264326.4:c.511T>A	XP_005264383.1:p.Trp171Arg
XM_006712021.3:c.463T>A	XP_006712084.1:p.Trp155Arg
XM_017004150.1:c.493T>A	XP_016859639.1:p.Trp165Arg
XM_017004151.1:c.463T>A	XP_016859640.1:p.Trp155Arg
XM_017004152.1:c.352T>A	XP_016859641.1:p.Trp118Arg
XM_024452913.1:c.463T>A	XP_024308681.1:p.Trp155Arg
NM_002437.5:c.511T>A MANE Select	NP_002428.1:p.Trp171Arg