Canonical Allele Identifier: CA425605925

Gene: MPV17

Linked Data

• MyVariant Identifiers: chr2:g.27535388G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27312521G>T , CM000664.2:g.27312521G>T	GRCh38
NC_000002.11:g.27535388G>T , CM000664.1:g.27535388G>T	GRCh37
NC_000002.10:g.27388892G>T	NCBI36
NG_008075.1:g.15044C>A
NG_033055.1:g.743C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380044.6:c.348C>A MANE Select	ENSP00000369383.1:p.Ala116=
ENST00000233545.6:c.348C>A	ENSP00000233545.2:p.Ala116=
ENST00000357186.10:c.180C>A	ENSP00000349713.6:p.Ala60=
ENST00000380044.5:c.348C>A	ENSP00000369383.1:p.Ala116=
ENST00000402310.5:c.348C>A	ENSP00000383955.1:p.Ala116=
ENST00000402722.5:c.*13C>A	ENSP00000386000.1:n.*13C>A
ENST00000403262.6:c.348C>A	ENSP00000385671.1:p.Ala116=
ENST00000405076.5:c.187-275C>A	ENSP00000385175.1:n.187-275C>A
ENST00000405983.5:c.393C>A	ENSP00000384586.1:p.Ala131=
ENST00000415514.5:c.*149C>A	ENSP00000388043.1:n.*149C>A
ENST00000426513.6:c.*13C>A	ENSP00000403824.2:n.*13C>A
ENST00000428910.5:c.270C>A	ENSP00000405235.1:p.Ala90=
ENST00000430991.5:c.209+159C>A
ENST00000475085.1:n.376C>A
ENST00000616446.1:n.325C>A
ENST00000616707.1:n.867C>A
ENST00000617583.4:n.374C>A
ENST00000621183.4:n.404C>A
ENST00000621470.4:n.364C>A
ENST00000622003.4:n.521C>A
NM_002437.4:c.348C>A	NP_002428.1:p.Ala116=
XM_005264326.2:c.348C>A	XP_005264383.1:p.Ala116=
XM_005264327.2:c.189C>A	XP_005264384.1:p.Ala63=
XM_006712021.2:c.300C>A	XP_006712084.1:p.Ala100=
XM_005264326.4:c.348C>A	XP_005264383.1:p.Ala116=
XM_006712021.3:c.300C>A	XP_006712084.1:p.Ala100=
XM_017004150.1:c.330C>A	XP_016859639.1:p.Ala110=
XM_017004151.1:c.300C>A	XP_016859640.1:p.Ala100=
XM_017004152.1:c.189C>A	XP_016859641.1:p.Ala63=
XM_024452913.1:c.300C>A	XP_024308681.1:p.Ala100=
NM_002437.5:c.348C>A MANE Select	NP_002428.1:p.Ala116=