Canonical Allele Identifier: CA346207226

Gene: MPV17

Linked Data

• MyVariant Identifiers: chr2:g.27534797G>A (hg19) ; chr2:g.27311929G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27311929G>A , CM000664.2:g.27311929G>A	GRCh38
NC_000002.11:g.27534797G>A , CM000664.1:g.27534797G>A	GRCh37
NC_000002.10:g.27388301G>A	NCBI36
NG_008075.1:g.15635C>T
NG_033055.1:g.1334C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380044.6:c.431C>T MANE Select	ENSP00000369383.1:p.Ala144Val
ENST00000233545.6:c.431C>T	ENSP00000233545.2:p.Ala144Val
ENST00000357186.10:c.263C>T	ENSP00000349713.6:p.Ala88Val
ENST00000380044.5:c.431C>T	ENSP00000369383.1:p.Ala144Val
ENST00000402310.5:c.408+285C>T	ENSP00000383955.1:n.408+285C>T
ENST00000402722.5:c.*40+565C>T	ENSP00000386000.1:n.*40+565C>T
ENST00000403262.6:c.431C>T	ENSP00000385671.1:p.Ala144Val
ENST00000405076.5:c.242C>T	ENSP00000385175.1:p.Ala81Val
ENST00000405983.5:c.476C>T	ENSP00000384586.1:p.Ala159Val
ENST00000415514.5:c.*232C>T	ENSP00000388043.1:n.*232C>T
ENST00000426513.6:c.*96C>T	ENSP00000403824.2:n.*96C>T
ENST00000430991.5:c.265C>T
ENST00000616707.1:n.1459C>T
ENST00000620797.4:n.104C>T
ENST00000621183.4:n.734C>T
NM_002437.4:c.431C>T	NP_002428.1:p.Ala144Val
XM_005264326.2:c.431C>T	XP_005264383.1:p.Ala144Val
XM_005264327.2:c.272C>T	XP_005264384.1:p.Ala91Val
XM_006712021.2:c.383C>T	XP_006712084.1:p.Ala128Val
XM_005264326.4:c.431C>T	XP_005264383.1:p.Ala144Val
XM_006712021.3:c.383C>T	XP_006712084.1:p.Ala128Val
XM_017004150.1:c.413C>T	XP_016859639.1:p.Ala138Val
XM_017004151.1:c.383C>T	XP_016859640.1:p.Ala128Val
XM_017004152.1:c.272C>T	XP_016859641.1:p.Ala91Val
XM_024452913.1:c.383C>T	XP_024308681.1:p.Ala128Val
NM_002437.5:c.431C>T MANE Select	NP_002428.1:p.Ala144Val