Canonical Allele Identifier: CA44517816

Gene: MPV17

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27312255A>C , CM000664.2:g.27312255A>C	GRCh38
NC_000002.11:g.27535123A>C , CM000664.1:g.27535123A>C	GRCh37
NC_000002.10:g.27388627A>C	NCBI36
NG_008075.1:g.15309T>G
NG_033055.1:g.1008T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380044.6:c.376-9T>G MANE Select	ENSP00000369383.1:n.376-9T>G
ENST00000233545.6:c.376-9T>G	ENSP00000233545.2:n.376-9T>G
ENST00000357186.10:c.208-9T>G	ENSP00000349713.6:n.208-9T>G
ENST00000380044.5:c.376-9T>G	ENSP00000369383.1:n.376-9T>G
ENST00000402310.5:c.376-9T>G	ENSP00000383955.1:n.376-9T>G
ENST00000402722.5:c.*40+239T>G	ENSP00000386000.1:n.*40+239T>G
ENST00000403262.6:c.376-9T>G	ENSP00000385671.1:n.376-9T>G
ENST00000405076.5:c.187-9T>G	ENSP00000385175.1:n.187-9T>G
ENST00000405983.5:c.421-9T>G	ENSP00000384586.1:n.421-9T>G
ENST00000415514.5:c.*177-9T>G	ENSP00000388043.1:n.*177-9T>G
ENST00000426513.6:c.*41-9T>G	ENSP00000403824.2:n.*41-9T>G
ENST00000428910.5:c.298-9T>G	ENSP00000405235.1:n.298-9T>G
ENST00000430991.5:c.210-9T>G
ENST00000475085.1:n.404-9T>G
ENST00000616707.1:n.1133T>G
ENST00000617583.4:n.640T>G
ENST00000620797.4:n.49-9T>G
ENST00000621183.4:n.670T>G
ENST00000621470.4:n.630T>G
ENST00000622003.4:n.787T>G
NM_002437.4:c.376-9T>G	NP_002428.1:n.376-9T>G
XM_005264326.2:c.376-9T>G	XP_005264383.1:n.376-9T>G
XM_005264327.2:c.217-9T>G	XP_005264384.1:n.217-9T>G
XM_006712021.2:c.328-9T>G	XP_006712084.1:n.328-9T>G
XM_005264326.4:c.376-9T>G	XP_005264383.1:n.376-9T>G
XM_006712021.3:c.328-9T>G	XP_006712084.1:n.328-9T>G
XM_017004150.1:c.358-9T>G	XP_016859639.1:n.358-9T>G
XM_017004151.1:c.328-9T>G	XP_016859640.1:n.328-9T>G
XM_017004152.1:c.217-9T>G	XP_016859641.1:n.217-9T>G
XM_024452913.1:c.328-9T>G	XP_024308681.1:n.328-9T>G
NM_002437.5:c.376-9T>G MANE Select	NP_002428.1:n.376-9T>G