Canonical Allele Identifier: CA346209175

Gene: MPV17

Linked Data

• MyVariant Identifiers: chr2:g.27535876C>T (hg19) ; chr2:g.27313009C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27313009C>T , CM000664.2:g.27313009C>T	GRCh38
NC_000002.11:g.27535876C>T , CM000664.1:g.27535876C>T	GRCh37
NC_000002.10:g.27389380C>T	NCBI36
NG_008075.1:g.14556G>A
NG_033055.1:g.255G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380044.6:c.171G>A MANE Select	ENSP00000369383.1:p.Leu57=
ENST00000233545.6:c.171G>A	ENSP00000233545.2:p.Leu57=
ENST00000357186.10:c.19-237G>A	ENSP00000349713.6:n.19-237G>A
ENST00000380044.5:c.171G>A	ENSP00000369383.1:p.Leu57=
ENST00000402310.5:c.171G>A	ENSP00000383955.1:p.Leu57=
ENST00000402722.5:c.136G>A	ENSP00000386000.1:p.Gly46Arg
ENST00000403262.6:c.171G>A	ENSP00000385671.1:p.Leu57=
ENST00000405076.5:c.171G>A	ENSP00000385175.1:p.Leu57=
ENST00000405983.5:c.216G>A	ENSP00000384586.1:p.Leu72=
ENST00000415514.5:c.228-237G>A	ENSP00000388043.1:n.228-237G>A
ENST00000426513.6:c.136G>A	ENSP00000403824.2:p.Gly46Arg
ENST00000428910.5:c.93G>A	ENSP00000405235.1:p.Leu31=
ENST00000430991.5:c.101G>A
ENST00000616446.1:n.148G>A
ENST00000616707.1:n.379G>A
ENST00000617583.4:n.197G>A
ENST00000621183.4:n.227G>A
ENST00000621470.4:n.187G>A
ENST00000622003.4:n.344G>A
NM_002437.4:c.171G>A	NP_002428.1:p.Leu57=
XM_005264326.2:c.171G>A	XP_005264383.1:p.Leu57=
XM_005264327.2:c.12G>A	XP_005264384.1:p.Leu4=
XM_006712021.2:c.123G>A	XP_006712084.1:p.Leu41=
XM_005264326.4:c.171G>A	XP_005264383.1:p.Leu57=
XM_006712021.3:c.123G>A	XP_006712084.1:p.Leu41=
XM_017004150.1:c.153G>A	XP_016859639.1:p.Leu51=
XM_017004151.1:c.123G>A	XP_016859640.1:p.Leu41=
XM_017004152.1:c.12G>A	XP_016859641.1:p.Leu4=
XM_024452913.1:c.123G>A	XP_024308681.1:p.Leu41=
NM_002437.5:c.171G>A MANE Select	NP_002428.1:p.Leu57=