Canonical Allele Identifier: CA1575662

Gene: MPV17

Linked Data

• dbSNP Id: rs769489459
• ExAC: 2:27535893 G / A
• gnomAD v2: 2-27535893-G-A
• gnomAD v4: 2-27313026-G-A
• MyVariant Identifiers: chr2:g.27535893G>A (hg19) ; chr2:g.27313026G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27313026G>A , CM000664.2:g.27313026G>A	GRCh38
NC_000002.11:g.27535893G>A , CM000664.1:g.27535893G>A	GRCh37
NC_000002.10:g.27389397G>A	NCBI36
NG_008075.1:g.14539C>T
NG_033055.1:g.238C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380044.6:c.154C>T MANE Select	ENSP00000369383.1:p.Leu52=
ENST00000233545.6:c.154C>T	ENSP00000233545.2:p.Leu52=
ENST00000357186.10:c.19-254C>T	ENSP00000349713.6:n.19-254C>T
ENST00000380044.5:c.154C>T	ENSP00000369383.1:p.Leu52=
ENST00000402310.5:c.154C>T	ENSP00000383955.1:p.Leu52=
ENST00000402722.5:c.119C>T	ENSP00000386000.1:p.Ser40Phe
ENST00000403262.6:c.154C>T	ENSP00000385671.1:p.Leu52=
ENST00000405076.5:c.154C>T	ENSP00000385175.1:p.Leu52=
ENST00000405983.5:c.199C>T	ENSP00000384586.1:p.Leu67=
ENST00000415514.5:c.228-254C>T	ENSP00000388043.1:n.228-254C>T
ENST00000426513.6:c.119C>T	ENSP00000403824.2:p.Ser40Phe
ENST00000428910.5:c.76C>T	ENSP00000405235.1:p.Leu26=
ENST00000430991.5:c.84C>T
ENST00000616446.1:n.131C>T
ENST00000616707.1:n.362C>T
ENST00000617583.4:n.180C>T
ENST00000621183.4:n.210C>T
ENST00000621470.4:n.170C>T
ENST00000622003.4:n.327C>T
NM_002437.4:c.154C>T	NP_002428.1:p.Leu52=
XM_005264326.2:c.154C>T	XP_005264383.1:p.Leu52=
XM_005264327.2:c.-6C>T	XP_005264384.1:n.-6C>T
XM_006712021.2:c.106C>T	XP_006712084.1:p.Leu36=
XM_005264326.4:c.154C>T	XP_005264383.1:p.Leu52=
XM_006712021.3:c.106C>T	XP_006712084.1:p.Leu36=
XM_017004150.1:c.136C>T	XP_016859639.1:p.Leu46=
XM_017004151.1:c.106C>T	XP_016859640.1:p.Leu36=
XM_017004152.1:c.-6C>T	XP_016859641.1:n.-6C>T
XM_024452913.1:c.106C>T	XP_024308681.1:p.Leu36=
NM_002437.5:c.154C>T MANE Select	NP_002428.1:p.Leu52=