Canonical Allele Identifier: CA346208475

Gene: MPV17

Linked Data

• MyVariant Identifiers: chr2:g.27535553C>A (hg19) ; chr2:g.27312686C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27312686C>A , CM000664.2:g.27312686C>A	GRCh38
NC_000002.11:g.27535553C>A , CM000664.1:g.27535553C>A	GRCh37
NC_000002.10:g.27389057C>A	NCBI36
NG_008075.1:g.14879G>T
NG_033055.1:g.578G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000380044.6:c.273G>T MANE Select	ENSP00000369383.1:p.Leu91Phe
ENST00000233545.6:c.273G>T	ENSP00000233545.2:p.Leu91Phe
ENST00000357186.10:c.105G>T	ENSP00000349713.6:p.Leu35Phe
ENST00000380044.5:c.273G>T	ENSP00000369383.1:p.Leu91Phe
ENST00000402310.5:c.273G>T	ENSP00000383955.1:p.Leu91Phe
ENST00000402722.5:c.238G>T	ENSP00000386000.1:p.Gly80Ter
ENST00000403262.6:c.273G>T	ENSP00000385671.1:p.Leu91Phe
ENST00000405076.5:c.186+308G>T	ENSP00000385175.1:n.186+308G>T
ENST00000405983.5:c.318G>T	ENSP00000384586.1:p.Leu106Phe
ENST00000415514.5:c.*74G>T	ENSP00000388043.1:n.*74G>T
ENST00000426513.6:c.238G>T	ENSP00000403824.2:p.Gly80Ter
ENST00000428910.5:c.195G>T	ENSP00000405235.1:p.Leu65Phe
ENST00000430991.5:c.203G>T
ENST00000475085.1:n.301G>T
ENST00000616446.1:n.250G>T
ENST00000616707.1:n.702G>T
ENST00000617583.4:n.299G>T
ENST00000621183.4:n.329G>T
ENST00000621470.4:n.289G>T
ENST00000622003.4:n.446G>T
NM_002437.4:c.273G>T	NP_002428.1:p.Leu91Phe
XM_005264326.2:c.273G>T	XP_005264383.1:p.Leu91Phe
XM_005264327.2:c.114G>T	XP_005264384.1:p.Leu38Phe
XM_006712021.2:c.225G>T	XP_006712084.1:p.Leu75Phe
XM_005264326.4:c.273G>T	XP_005264383.1:p.Leu91Phe
XM_006712021.3:c.225G>T	XP_006712084.1:p.Leu75Phe
XM_017004150.1:c.255G>T	XP_016859639.1:p.Leu85Phe
XM_017004151.1:c.225G>T	XP_016859640.1:p.Leu75Phe
XM_017004152.1:c.114G>T	XP_016859641.1:p.Leu38Phe
XM_024452913.1:c.225G>T	XP_024308681.1:p.Leu75Phe
NM_002437.5:c.273G>T MANE Select	NP_002428.1:p.Leu91Phe