Canonical Allele Identifier: CA10613070

Gene: MPV17

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27309782C>A , CM000664.2:g.27309782C>A	GRCh38
NC_000002.11:g.27532650C>A , CM000664.1:g.27532650C>A	GRCh37
NC_000002.10:g.27386154C>A	NCBI36
NG_008075.1:g.17782G>T
NG_033055.1:g.3481G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380044.6:c.*130G>T MANE Select	ENSP00000369383.1:n.*130G>T
ENST00000233545.6:c.*130G>T	ENSP00000233545.2:n.*130G>T
ENST00000357186.10:c.*130G>T	ENSP00000349713.6:n.*130G>T
ENST00000380044.5:c.*130G>T	ENSP00000369383.1:n.*130G>T
ENST00000402310.5:c.*95G>T	ENSP00000383955.1:n.*95G>T
ENST00000402722.5:c.*240G>T	ENSP00000386000.1:n.*240G>T
ENST00000405076.5:c.*130G>T	ENSP00000385175.1:n.*130G>T
ENST00000405983.5:c.*130G>T	ENSP00000384586.1:n.*130G>T
ENST00000426513.6:c.*326G>T	ENSP00000403824.2:n.*326G>T
ENST00000620797.4:n.334G>T
NM_002437.4:c.*130G>T	NP_002428.1:n.*130G>T
XM_005264326.2:c.*130G>T	XP_005264383.1:n.*130G>T
XM_005264327.2:c.*130G>T	XP_005264384.1:n.*130G>T
XM_006712021.2:c.*130G>T	XP_006712084.1:n.*130G>T
XM_005264326.4:c.*130G>T	XP_005264383.1:n.*130G>T
XM_006712021.3:c.*130G>T	XP_006712084.1:n.*130G>T
XM_017004150.1:c.*130G>T	XP_016859639.1:n.*130G>T
XM_017004151.1:c.*130G>T	XP_016859640.1:n.*130G>T
XM_017004152.1:c.*130G>T	XP_016859641.1:n.*130G>T
XM_024452913.1:c.*130G>T	XP_024308681.1:n.*130G>T
NM_002437.5:c.*130G>T MANE Select	NP_002428.1:n.*130G>T