Canonical Allele Identifier: CA346207234

Gene: MPV17

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380044.6:c.431C>A MANE Select	ENSP00000369383.1:p.Ala144Asp
ENST00000233545.6:c.431C>A	ENSP00000233545.2:p.Ala144Asp
ENST00000357186.10:c.263C>A	ENSP00000349713.6:p.Ala88Asp
ENST00000380044.5:c.431C>A	ENSP00000369383.1:p.Ala144Asp
ENST00000402310.5:c.408+285C>A	ENSP00000383955.1:n.408+285C>A
ENST00000402722.5:c.*40+565C>A	ENSP00000386000.1:n.*40+565C>A
ENST00000403262.6:c.431C>A	ENSP00000385671.1:p.Ala144Asp
ENST00000405076.5:c.242C>A	ENSP00000385175.1:p.Ala81Asp
ENST00000405983.5:c.476C>A	ENSP00000384586.1:p.Ala159Asp
ENST00000415514.5:c.*232C>A	ENSP00000388043.1:n.*232C>A
ENST00000426513.6:c.*96C>A	ENSP00000403824.2:n.*96C>A
ENST00000430991.5:c.265C>A
ENST00000616707.1:n.1459C>A
ENST00000620797.4:n.104C>A
ENST00000621183.4:n.734C>A
NM_002437.4:c.431C>A	NP_002428.1:p.Ala144Asp
XM_005264326.2:c.431C>A	XP_005264383.1:p.Ala144Asp
XM_005264327.2:c.272C>A	XP_005264384.1:p.Ala91Asp
XM_006712021.2:c.383C>A	XP_006712084.1:p.Ala128Asp
XM_005264326.4:c.431C>A	XP_005264383.1:p.Ala144Asp
XM_006712021.3:c.383C>A	XP_006712084.1:p.Ala128Asp
XM_017004150.1:c.413C>A	XP_016859639.1:p.Ala138Asp
XM_017004151.1:c.383C>A	XP_016859640.1:p.Ala128Asp
XM_017004152.1:c.272C>A	XP_016859641.1:p.Ala91Asp
XM_024452913.1:c.383C>A	XP_024308681.1:p.Ala128Asp
NM_002437.5:c.431C>A MANE Select	NP_002428.1:p.Ala144Asp