Canonical Allele Identifier: CA425394655

Gene: MPV17

Linked Data

• MyVariant Identifiers: chr2:g.27535960C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27313093C>G , CM000664.2:g.27313093C>G	GRCh38
NC_000002.11:g.27535960C>G , CM000664.1:g.27535960C>G	GRCh37
NC_000002.10:g.27389464C>G	NCBI36
NG_008075.1:g.14472G>C
NG_033055.1:g.171G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380044.6:c.87G>C MANE Select	ENSP00000369383.1:p.Leu29=
ENST00000233545.6:c.87G>C	ENSP00000233545.2:p.Leu29=
ENST00000357186.10:c.19-321G>C	ENSP00000349713.6:n.19-321G>C
ENST00000380044.5:c.87G>C	ENSP00000369383.1:p.Leu29=
ENST00000402310.5:c.87G>C	ENSP00000383955.1:p.Leu29=
ENST00000402722.5:c.71-19G>C	ENSP00000386000.1:n.71-19G>C
ENST00000403262.6:c.87G>C	ENSP00000385671.1:p.Leu29=
ENST00000405076.5:c.87G>C	ENSP00000385175.1:p.Leu29=
ENST00000405983.5:c.132G>C	ENSP00000384586.1:p.Leu44=
ENST00000415514.5:c.228-321G>C	ENSP00000388043.1:n.228-321G>C
ENST00000426513.6:c.71-19G>C	ENSP00000403824.2:n.71-19G>C
ENST00000428910.5:c.9G>C	ENSP00000405235.1:p.Leu3=
ENST00000430991.5:c.17G>C
ENST00000616446.1:n.64G>C
ENST00000616707.1:n.295G>C
ENST00000617583.4:n.113G>C
ENST00000621183.4:n.143G>C
ENST00000621470.4:n.122-19G>C
ENST00000622003.4:n.260G>C
NM_002437.4:c.87G>C	NP_002428.1:p.Leu29=
XM_005264326.2:c.87G>C	XP_005264383.1:p.Leu29=
XM_005264327.2:c.-54-19G>C	XP_005264384.1:n.-54-19G>C
XM_006712021.2:c.39G>C	XP_006712084.1:p.Leu13=
XM_005264326.4:c.87G>C	XP_005264383.1:p.Leu29=
XM_006712021.3:c.39G>C	XP_006712084.1:p.Leu13=
XM_017004150.1:c.69G>C	XP_016859639.1:p.Leu23=
XM_017004151.1:c.39G>C	XP_016859640.1:p.Leu13=
XM_017004152.1:c.-54-19G>C	XP_016859641.1:n.-54-19G>C
XM_024452913.1:c.39G>C	XP_024308681.1:p.Leu13=
NM_002437.5:c.87G>C MANE Select	NP_002428.1:p.Leu29=