Canonical Allele Identifier: CA346209440

Gene: MPV17

Linked Data

• MyVariant Identifiers: chr2:g.27535934A>T (hg19) ; chr2:g.27313067A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27313067A>T , CM000664.2:g.27313067A>T	GRCh38
NC_000002.11:g.27535934A>T , CM000664.1:g.27535934A>T	GRCh37
NC_000002.10:g.27389438A>T	NCBI36
NG_008075.1:g.14498T>A
NG_033055.1:g.197T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380044.6:c.113T>A MANE Select	ENSP00000369383.1:p.Val38Glu
ENST00000233545.6:c.113T>A	ENSP00000233545.2:p.Val38Glu
ENST00000357186.10:c.19-295T>A	ENSP00000349713.6:n.19-295T>A
ENST00000380044.5:c.113T>A	ENSP00000369383.1:p.Val38Glu
ENST00000402310.5:c.113T>A	ENSP00000383955.1:p.Val38Glu
ENST00000402722.5:c.78T>A	ENSP00000386000.1:p.Gly26=
ENST00000403262.6:c.113T>A	ENSP00000385671.1:p.Val38Glu
ENST00000405076.5:c.113T>A	ENSP00000385175.1:p.Val38Glu
ENST00000405983.5:c.158T>A	ENSP00000384586.1:p.Val53Glu
ENST00000415514.5:c.228-295T>A	ENSP00000388043.1:n.228-295T>A
ENST00000426513.6:c.78T>A	ENSP00000403824.2:p.Gly26=
ENST00000428910.5:c.35T>A	ENSP00000405235.1:p.Val12Glu
ENST00000430991.5:c.43T>A
ENST00000616446.1:n.90T>A
ENST00000616707.1:n.321T>A
ENST00000617583.4:n.139T>A
ENST00000621183.4:n.169T>A
ENST00000621470.4:n.129T>A
ENST00000622003.4:n.286T>A
NM_002437.4:c.113T>A	NP_002428.1:p.Val38Glu
XM_005264326.2:c.113T>A	XP_005264383.1:p.Val38Glu
XM_005264327.2:c.-47T>A	XP_005264384.1:n.-47T>A
XM_006712021.2:c.65T>A	XP_006712084.1:p.Val22Glu
XM_005264326.4:c.113T>A	XP_005264383.1:p.Val38Glu
XM_006712021.3:c.65T>A	XP_006712084.1:p.Val22Glu
XM_017004150.1:c.95T>A	XP_016859639.1:p.Val32Glu
XM_017004151.1:c.65T>A	XP_016859640.1:p.Val22Glu
XM_017004152.1:c.-47T>A	XP_016859641.1:n.-47T>A
XM_024452913.1:c.65T>A	XP_024308681.1:p.Val22Glu
NM_002437.5:c.113T>A MANE Select	NP_002428.1:p.Val38Glu