Canonical Allele Identifier: CA346209151

Gene: MPV17

Linked Data

• dbSNP Id: rs1159578682
• MyVariant Identifiers: chr2:g.27535872A>C (hg19) ; chr2:g.27313005A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27313005A>C , CM000664.2:g.27313005A>C	GRCh38
NC_000002.11:g.27535872A>C , CM000664.1:g.27535872A>C	GRCh37
NC_000002.10:g.27389376A>C	NCBI36
NG_008075.1:g.14560T>G
NG_033055.1:g.259T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380044.6:c.175T>G MANE Select	ENSP00000369383.1:p.Cys59Gly
ENST00000233545.6:c.175T>G	ENSP00000233545.2:p.Cys59Gly
ENST00000357186.10:c.19-233T>G	ENSP00000349713.6:n.19-233T>G
ENST00000380044.5:c.175T>G	ENSP00000369383.1:p.Cys59Gly
ENST00000402310.5:c.175T>G	ENSP00000383955.1:p.Cys59Gly
ENST00000402722.5:c.140T>G	ENSP00000386000.1:p.Leu47Arg
ENST00000403262.6:c.175T>G	ENSP00000385671.1:p.Cys59Gly
ENST00000405076.5:c.175T>G	ENSP00000385175.1:p.Cys59Gly
ENST00000405983.5:c.220T>G	ENSP00000384586.1:p.Cys74Gly
ENST00000415514.5:c.228-233T>G	ENSP00000388043.1:n.228-233T>G
ENST00000426513.6:c.140T>G	ENSP00000403824.2:p.Leu47Arg
ENST00000428910.5:c.97T>G	ENSP00000405235.1:p.Cys33Gly
ENST00000430991.5:c.105T>G
ENST00000616446.1:n.152T>G
ENST00000616707.1:n.383T>G
ENST00000617583.4:n.201T>G
ENST00000621183.4:n.231T>G
ENST00000621470.4:n.191T>G
ENST00000622003.4:n.348T>G
NM_002437.4:c.175T>G	NP_002428.1:p.Cys59Gly
XM_005264326.2:c.175T>G	XP_005264383.1:p.Cys59Gly
XM_005264327.2:c.16T>G	XP_005264384.1:p.Cys6Gly
XM_006712021.2:c.127T>G	XP_006712084.1:p.Cys43Gly
XM_005264326.4:c.175T>G	XP_005264383.1:p.Cys59Gly
XM_006712021.3:c.127T>G	XP_006712084.1:p.Cys43Gly
XM_017004150.1:c.157T>G	XP_016859639.1:p.Cys53Gly
XM_017004151.1:c.127T>G	XP_016859640.1:p.Cys43Gly
XM_017004152.1:c.16T>G	XP_016859641.1:p.Cys6Gly
XM_024452913.1:c.127T>G	XP_024308681.1:p.Cys43Gly
NM_002437.5:c.175T>G MANE Select	NP_002428.1:p.Cys59Gly