Canonical Allele Identifier: CA1575508

Gene: MPV17

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27311909G>A , CM000664.2:g.27311909G>A	GRCh38
NC_000002.11:g.27534777G>A , CM000664.1:g.27534777G>A	GRCh37
NC_000002.10:g.27388281G>A	NCBI36
NG_008075.1:g.15655C>T
NG_033055.1:g.1354C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380044.6:c.451C>T MANE Select	ENSP00000369383.1:p.Leu151Phe
ENST00000233545.6:c.451C>T	ENSP00000233545.2:p.Leu151Phe
ENST00000357186.10:c.283C>T	ENSP00000349713.6:p.Leu95Phe
ENST00000380044.5:c.451C>T	ENSP00000369383.1:p.Leu151Phe
ENST00000402310.5:c.408+305C>T	ENSP00000383955.1:n.408+305C>T
ENST00000402722.5:c.*40+585C>T	ENSP00000386000.1:n.*40+585C>T
ENST00000403262.6:c.451C>T	ENSP00000385671.1:p.Leu151Phe
ENST00000405076.5:c.262C>T	ENSP00000385175.1:p.Leu88Phe
ENST00000405983.5:c.496C>T	ENSP00000384586.1:p.Leu166Phe
ENST00000415514.5:c.*252C>T	ENSP00000388043.1:n.*252C>T
ENST00000426513.6:c.*116C>T	ENSP00000403824.2:n.*116C>T
ENST00000430991.5:c.285C>T
ENST00000616707.1:n.1479C>T
ENST00000620797.4:n.124C>T
ENST00000621183.4:n.754C>T
NM_002437.4:c.451C>T	NP_002428.1:p.Leu151Phe
XM_005264326.2:c.451C>T	XP_005264383.1:p.Leu151Phe
XM_005264327.2:c.292C>T	XP_005264384.1:p.Leu98Phe
XM_006712021.2:c.403C>T	XP_006712084.1:p.Leu135Phe
XM_005264326.4:c.451C>T	XP_005264383.1:p.Leu151Phe
XM_006712021.3:c.403C>T	XP_006712084.1:p.Leu135Phe
XM_017004150.1:c.433C>T	XP_016859639.1:p.Leu145Phe
XM_017004151.1:c.403C>T	XP_016859640.1:p.Leu135Phe
XM_017004152.1:c.292C>T	XP_016859641.1:p.Leu98Phe
XM_024452913.1:c.403C>T	XP_024308681.1:p.Leu135Phe
NM_002437.5:c.451C>T MANE Select	NP_002428.1:p.Leu151Phe