Canonical Allele Identifier: CA346209397

Gene: MPV17

Linked Data

• MyVariant Identifiers: chr2:g.27535918C>G (hg19) ; chr2:g.27313051C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27313051C>G , CM000664.2:g.27313051C>G	GRCh38
NC_000002.11:g.27535918C>G , CM000664.1:g.27535918C>G	GRCh37
NC_000002.10:g.27389422C>G	NCBI36
NG_008075.1:g.14514G>C
NG_033055.1:g.213G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380044.6:c.129G>C MANE Select	ENSP00000369383.1:p.Leu43=
ENST00000233545.6:c.129G>C	ENSP00000233545.2:p.Leu43=
ENST00000357186.10:c.19-279G>C	ENSP00000349713.6:n.19-279G>C
ENST00000380044.5:c.129G>C	ENSP00000369383.1:p.Leu43=
ENST00000402310.5:c.129G>C	ENSP00000383955.1:p.Leu43=
ENST00000402722.5:c.94G>C	ENSP00000386000.1:p.Ala32Pro
ENST00000403262.6:c.129G>C	ENSP00000385671.1:p.Leu43=
ENST00000405076.5:c.129G>C	ENSP00000385175.1:p.Leu43=
ENST00000405983.5:c.174G>C	ENSP00000384586.1:p.Leu58=
ENST00000415514.5:c.228-279G>C	ENSP00000388043.1:n.228-279G>C
ENST00000426513.6:c.94G>C	ENSP00000403824.2:p.Ala32Pro
ENST00000428910.5:c.51G>C	ENSP00000405235.1:p.Leu17=
ENST00000430991.5:c.59G>C
ENST00000616446.1:n.106G>C
ENST00000616707.1:n.337G>C
ENST00000617583.4:n.155G>C
ENST00000621183.4:n.185G>C
ENST00000621470.4:n.145G>C
ENST00000622003.4:n.302G>C
NM_002437.4:c.129G>C	NP_002428.1:p.Leu43=
XM_005264326.2:c.129G>C	XP_005264383.1:p.Leu43=
XM_005264327.2:c.-31G>C	XP_005264384.1:n.-31G>C
XM_006712021.2:c.81G>C	XP_006712084.1:p.Leu27=
XM_005264326.4:c.129G>C	XP_005264383.1:p.Leu43=
XM_006712021.3:c.81G>C	XP_006712084.1:p.Leu27=
XM_017004150.1:c.111G>C	XP_016859639.1:p.Leu37=
XM_017004151.1:c.81G>C	XP_016859640.1:p.Leu27=
XM_017004152.1:c.-31G>C	XP_016859641.1:n.-31G>C
XM_024452913.1:c.81G>C	XP_024308681.1:p.Leu27=
NM_002437.5:c.129G>C MANE Select	NP_002428.1:p.Leu43=