Canonical Allele Identifier: CA1575538

Gene: MPV17

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27312232G>C , CM000664.2:g.27312232G>C	GRCh38
NC_000002.11:g.27535100G>C , CM000664.1:g.27535100G>C	GRCh37
NC_000002.10:g.27388604G>C	NCBI36
NG_008075.1:g.15332C>G
NG_033055.1:g.1031C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_002437.5:c.390C>G MANE Select	NP_002428.1:p.Ala130=
ENST00000380044.6:c.390C>G MANE Select	ENSP00000369383.1:p.Ala130=
NM_002437.4:c.390C>G	NP_002428.1:p.Ala130=
ENST00000233545.6:c.390C>G	ENSP00000233545.2:p.Ala130=
ENST00000357186.10:c.222C>G	ENSP00000349713.6:p.Ala74=
ENST00000380044.5:c.390C>G	ENSP00000369383.1:p.Ala130=
ENST00000402310.5:c.390C>G	ENSP00000383955.1:p.Ala130=
ENST00000402722.5:c.*40+262C>G	ENSP00000386000.1:n.*40+262C>G
ENST00000403262.6:c.390C>G	ENSP00000385671.1:p.Ala130=
ENST00000405076.5:c.201C>G	ENSP00000385175.1:p.Ala67=
ENST00000405983.5:c.435C>G	ENSP00000384586.1:p.Ala145=
ENST00000415514.5:c.*191C>G	ENSP00000388043.1:n.*191C>G
ENST00000426513.6:c.*55C>G	ENSP00000403824.2:n.*55C>G
ENST00000428910.5:c.312C>G	ENSP00000405235.1:p.Ala104=
ENST00000430991.5:c.224C>G
ENST00000475085.1:n.418C>G
ENST00000616707.1:n.1156C>G
ENST00000617583.4:n.663C>G
ENST00000620797.4:n.63C>G
ENST00000621183.4:n.693C>G
ENST00000621470.4:n.653C>G
XM_005264326.2:c.390C>G	XP_005264383.1:p.Ala130=
XM_005264326.4:c.390C>G	XP_005264383.1:p.Ala130=
XM_005264327.2:c.231C>G	XP_005264384.1:p.Ala77=
XM_006712021.2:c.342C>G	XP_006712084.1:p.Ala114=
XM_006712021.3:c.342C>G	XP_006712084.1:p.Ala114=
XM_017004150.1:c.372C>G	XP_016859639.1:p.Ala124=
XM_017004151.1:c.342C>G	XP_016859640.1:p.Ala114=
XM_017004152.1:c.231C>G	XP_016859641.1:p.Ala77=
XM_024452913.1:c.342C>G	XP_024308681.1:p.Ala114=