Canonical Allele Identifier: CA346207535

Gene: MPV17

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27312234C>G , CM000664.2:g.27312234C>G	GRCh38
NC_000002.11:g.27535102C>G , CM000664.1:g.27535102C>G	GRCh37
NC_000002.10:g.27388606C>G	NCBI36
NG_008075.1:g.15330G>C
NG_033055.1:g.1029G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380044.6:c.388G>C MANE Select	ENSP00000369383.1:p.Ala130Pro
ENST00000233545.6:c.388G>C	ENSP00000233545.2:p.Ala130Pro
ENST00000357186.10:c.220G>C	ENSP00000349713.6:p.Ala74Pro
ENST00000380044.5:c.388G>C	ENSP00000369383.1:p.Ala130Pro
ENST00000402310.5:c.388G>C	ENSP00000383955.1:p.Ala130Pro
ENST00000402722.5:c.*40+260G>C	ENSP00000386000.1:n.*40+260G>C
ENST00000403262.6:c.388G>C	ENSP00000385671.1:p.Ala130Pro
ENST00000405076.5:c.199G>C	ENSP00000385175.1:p.Ala67Pro
ENST00000405983.5:c.433G>C	ENSP00000384586.1:p.Ala145Pro
ENST00000415514.5:c.*189G>C	ENSP00000388043.1:n.*189G>C
ENST00000426513.6:c.*53G>C	ENSP00000403824.2:n.*53G>C
ENST00000428910.5:c.310G>C	ENSP00000405235.1:p.Ala104Pro
ENST00000430991.5:c.222G>C
ENST00000475085.1:n.416G>C
ENST00000616707.1:n.1154G>C
ENST00000617583.4:n.661G>C
ENST00000620797.4:n.61G>C
ENST00000621183.4:n.691G>C
ENST00000621470.4:n.651G>C
NM_002437.4:c.388G>C	NP_002428.1:p.Ala130Pro
XM_005264326.2:c.388G>C	XP_005264383.1:p.Ala130Pro
XM_005264327.2:c.229G>C	XP_005264384.1:p.Ala77Pro
XM_006712021.2:c.340G>C	XP_006712084.1:p.Ala114Pro
XM_005264326.4:c.388G>C	XP_005264383.1:p.Ala130Pro
XM_006712021.3:c.340G>C	XP_006712084.1:p.Ala114Pro
XM_017004150.1:c.370G>C	XP_016859639.1:p.Ala124Pro
XM_017004151.1:c.340G>C	XP_016859640.1:p.Ala114Pro
XM_017004152.1:c.229G>C	XP_016859641.1:p.Ala77Pro
XM_024452913.1:c.340G>C	XP_024308681.1:p.Ala114Pro
NM_002437.5:c.388G>C MANE Select	NP_002428.1:p.Ala130Pro