Canonical Allele Identifier: CA44517777

Gene: MPV17

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27312217G>T , CM000664.2:g.27312217G>T	GRCh38
NC_000002.11:g.27535085G>T , CM000664.1:g.27535085G>T	GRCh37
NC_000002.10:g.27388589G>T	NCBI36
NG_008075.1:g.15347C>A
NG_033055.1:g.1046C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_002437.5:c.405C>A MANE Select	NP_002428.1:p.Tyr135Ter
ENST00000380044.6:c.405C>A MANE Select	ENSP00000369383.1:p.Tyr135Ter
NM_002437.4:c.405C>A	NP_002428.1:p.Tyr135Ter
ENST00000233545.6:c.405C>A	ENSP00000233545.2:p.Tyr135Ter
ENST00000357186.10:c.237C>A	ENSP00000349713.6:p.Tyr79Ter
ENST00000380044.5:c.405C>A	ENSP00000369383.1:p.Tyr135Ter
ENST00000402310.5:c.405C>A	ENSP00000383955.1:p.Tyr135Ter
ENST00000402722.5:c.*40+277C>A	ENSP00000386000.1:n.*40+277C>A
ENST00000403262.6:c.405C>A	ENSP00000385671.1:p.Tyr135Ter
ENST00000405076.5:c.216C>A	ENSP00000385175.1:p.Tyr72Ter
ENST00000405983.5:c.450C>A	ENSP00000384586.1:p.Tyr150Ter
ENST00000415514.5:c.*206C>A	ENSP00000388043.1:n.*206C>A
ENST00000426513.6:c.*70C>A	ENSP00000403824.2:n.*70C>A
ENST00000428910.5:c.327C>A	ENSP00000405235.1:p.Tyr109Ter
ENST00000430991.5:c.239C>A
ENST00000475085.1:n.433C>A
ENST00000616707.1:n.1171C>A
ENST00000617583.4:n.678C>A
ENST00000620797.4:n.78C>A
ENST00000621183.4:n.708C>A
ENST00000621470.4:n.668C>A
XM_005264326.2:c.405C>A	XP_005264383.1:p.Tyr135Ter
XM_005264326.4:c.405C>A	XP_005264383.1:p.Tyr135Ter
XM_005264327.2:c.246C>A	XP_005264384.1:p.Tyr82Ter
XM_006712021.2:c.357C>A	XP_006712084.1:p.Tyr119Ter
XM_006712021.3:c.357C>A	XP_006712084.1:p.Tyr119Ter
XM_017004150.1:c.387C>A	XP_016859639.1:p.Tyr129Ter
XM_017004151.1:c.357C>A	XP_016859640.1:p.Tyr119Ter
XM_017004152.1:c.246C>A	XP_016859641.1:p.Tyr82Ter
XM_024452913.1:c.357C>A	XP_024308681.1:p.Tyr119Ter