Canonical Allele Identifier: CA346208826

Gene: MPV17

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27312736G>C , CM000664.2:g.27312736G>C	GRCh38
NC_000002.11:g.27535603G>C , CM000664.1:g.27535603G>C	GRCh37
NC_000002.10:g.27389107G>C	NCBI36
NG_008075.1:g.14829C>G
NG_033055.1:g.528C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_002437.5:c.223C>G MANE Select	NP_002428.1:p.Arg75Gly
ENST00000380044.6:c.223C>G MANE Select	ENSP00000369383.1:p.Arg75Gly
NM_002437.4:c.223C>G	NP_002428.1:p.Arg75Gly
ENST00000233545.6:c.223C>G	ENSP00000233545.2:p.Arg75Gly
ENST00000357186.10:c.55C>G	ENSP00000349713.6:p.Arg19Gly
ENST00000380044.5:c.223C>G	ENSP00000369383.1:p.Arg75Gly
ENST00000402310.5:c.223C>G	ENSP00000383955.1:p.Arg75Gly
ENST00000402722.5:c.188C>G	ENSP00000386000.1:p.Ser63Trp
ENST00000403262.6:c.223C>G	ENSP00000385671.1:p.Arg75Gly
ENST00000405076.5:c.186+258C>G	ENSP00000385175.1:n.186+258C>G
ENST00000405983.5:c.268C>G	ENSP00000384586.1:p.Arg90Gly
ENST00000415514.5:c.*24C>G	ENSP00000388043.1:n.*24C>G
ENST00000426513.6:c.188C>G	ENSP00000403824.2:p.Ser63Trp
ENST00000428910.5:c.145C>G	ENSP00000405235.1:p.Arg49Gly
ENST00000430991.5:c.153C>G
ENST00000475085.1:n.251C>G
ENST00000616446.1:n.200C>G
ENST00000616707.1:n.652C>G
ENST00000617583.4:n.249C>G
ENST00000621183.4:n.279C>G
ENST00000621470.4:n.239C>G
ENST00000622003.4:n.396C>G
XM_005264326.2:c.223C>G	XP_005264383.1:p.Arg75Gly
XM_005264326.4:c.223C>G	XP_005264383.1:p.Arg75Gly
XM_005264327.2:c.64C>G	XP_005264384.1:p.Arg22Gly
XM_006712021.2:c.175C>G	XP_006712084.1:p.Arg59Gly
XM_006712021.3:c.175C>G	XP_006712084.1:p.Arg59Gly
XM_017004150.1:c.205C>G	XP_016859639.1:p.Arg69Gly
XM_017004151.1:c.175C>G	XP_016859640.1:p.Arg59Gly
XM_017004152.1:c.64C>G	XP_016859641.1:p.Arg22Gly
XM_024452913.1:c.175C>G	XP_024308681.1:p.Arg59Gly