Canonical Allele Identifier: CA346207415

Gene: MPV17

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27312214A>C , CM000664.2:g.27312214A>C	GRCh38
NC_000002.11:g.27535082A>C , CM000664.1:g.27535082A>C	GRCh37
NC_000002.10:g.27388586A>C	NCBI36
NG_008075.1:g.15350T>G
NG_033055.1:g.1049T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_002437.5:c.408T>G MANE Select	NP_002428.1:p.Tyr136Ter
ENST00000380044.6:c.408T>G MANE Select	ENSP00000369383.1:p.Tyr136Ter
NM_002437.4:c.408T>G	NP_002428.1:p.Tyr136Ter
ENST00000233545.6:c.408T>G	ENSP00000233545.2:p.Tyr136Ter
ENST00000357186.10:c.240T>G	ENSP00000349713.6:p.Tyr80Ter
ENST00000380044.5:c.408T>G	ENSP00000369383.1:p.Tyr136Ter
ENST00000402310.5:c.408T>G	ENSP00000383955.1:p.Tyr136Ter
ENST00000402722.5:c.*40+280T>G	ENSP00000386000.1:n.*40+280T>G
ENST00000403262.6:c.408T>G	ENSP00000385671.1:p.Tyr136Ter
ENST00000405076.5:c.219T>G	ENSP00000385175.1:p.Tyr73Ter
ENST00000405983.5:c.453T>G	ENSP00000384586.1:p.Tyr151Ter
ENST00000415514.5:c.*209T>G	ENSP00000388043.1:n.*209T>G
ENST00000426513.6:c.*73T>G	ENSP00000403824.2:n.*73T>G
ENST00000428910.5:c.330T>G	ENSP00000405235.1:p.Tyr110Ter
ENST00000430991.5:c.242T>G
ENST00000475085.1:n.436T>G
ENST00000616707.1:n.1174T>G
ENST00000617583.4:n.681T>G
ENST00000620797.4:n.81T>G
ENST00000621183.4:n.711T>G
ENST00000621470.4:n.671T>G
XM_005264326.2:c.408T>G	XP_005264383.1:p.Tyr136Ter
XM_005264326.4:c.408T>G	XP_005264383.1:p.Tyr136Ter
XM_005264327.2:c.249T>G	XP_005264384.1:p.Tyr83Ter
XM_006712021.2:c.360T>G	XP_006712084.1:p.Tyr120Ter
XM_006712021.3:c.360T>G	XP_006712084.1:p.Tyr120Ter
XM_017004150.1:c.390T>G	XP_016859639.1:p.Tyr130Ter
XM_017004151.1:c.360T>G	XP_016859640.1:p.Tyr120Ter
XM_017004152.1:c.249T>G	XP_016859641.1:p.Tyr83Ter
XM_024452913.1:c.360T>G	XP_024308681.1:p.Tyr120Ter