Canonical Allele Identifier: CA346208934

Gene: MPV17

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27312749G>T , CM000664.2:g.27312749G>T	GRCh38
NC_000002.11:g.27535616G>T , CM000664.1:g.27535616G>T	GRCh37
NC_000002.10:g.27389120G>T	NCBI36
NG_008075.1:g.14816C>A
NG_033055.1:g.515C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380044.6:c.210C>A MANE Select	ENSP00000369383.1:p.Tyr70Ter
ENST00000233545.6:c.210C>A	ENSP00000233545.2:p.Tyr70Ter
ENST00000357186.10:c.42C>A	ENSP00000349713.6:p.Tyr14Ter
ENST00000380044.5:c.210C>A	ENSP00000369383.1:p.Tyr70Ter
ENST00000402310.5:c.210C>A	ENSP00000383955.1:p.Tyr70Ter
ENST00000402722.5:c.175C>A	ENSP00000386000.1:p.Gln59Lys
ENST00000403262.6:c.210C>A	ENSP00000385671.1:p.Tyr70Ter
ENST00000405076.5:c.186+245C>A	ENSP00000385175.1:n.186+245C>A
ENST00000405983.5:c.255C>A	ENSP00000384586.1:p.Tyr85Ter
ENST00000415514.5:c.*11C>A	ENSP00000388043.1:n.*11C>A
ENST00000426513.6:c.175C>A	ENSP00000403824.2:p.Gln59Lys
ENST00000428910.5:c.132C>A	ENSP00000405235.1:p.Tyr44Ter
ENST00000430991.5:c.140C>A
ENST00000475085.1:n.238C>A
ENST00000616446.1:n.187C>A
ENST00000616707.1:n.639C>A
ENST00000617583.4:n.236C>A
ENST00000621183.4:n.266C>A
ENST00000621470.4:n.226C>A
ENST00000622003.4:n.383C>A
NM_002437.4:c.210C>A	NP_002428.1:p.Tyr70Ter
XM_005264326.2:c.210C>A	XP_005264383.1:p.Tyr70Ter
XM_005264327.2:c.51C>A	XP_005264384.1:p.Tyr17Ter
XM_006712021.2:c.162C>A	XP_006712084.1:p.Tyr54Ter
XM_005264326.4:c.210C>A	XP_005264383.1:p.Tyr70Ter
XM_006712021.3:c.162C>A	XP_006712084.1:p.Tyr54Ter
XM_017004150.1:c.192C>A	XP_016859639.1:p.Tyr64Ter
XM_017004151.1:c.162C>A	XP_016859640.1:p.Tyr54Ter
XM_017004152.1:c.51C>A	XP_016859641.1:p.Tyr17Ter
XM_024452913.1:c.162C>A	XP_024308681.1:p.Tyr54Ter
NM_002437.5:c.210C>A MANE Select	NP_002428.1:p.Tyr70Ter