Canonical Allele Identifier: CA346208593

Gene: MPV17

Linked Data

• MyVariant Identifiers: chr2:g.27535572G>A (hg19) ; chr2:g.27312705G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27312705G>A , CM000664.2:g.27312705G>A	GRCh38
NC_000002.11:g.27535572G>A , CM000664.1:g.27535572G>A	GRCh37
NC_000002.10:g.27389076G>A	NCBI36
NG_008075.1:g.14860C>T
NG_033055.1:g.559C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000380044.6:c.254C>T MANE Select	ENSP00000369383.1:p.Ala85Val
ENST00000233545.6:c.254C>T	ENSP00000233545.2:p.Ala85Val
ENST00000357186.10:c.86C>T	ENSP00000349713.6:p.Ala29Val
ENST00000380044.5:c.254C>T	ENSP00000369383.1:p.Ala85Val
ENST00000402310.5:c.254C>T	ENSP00000383955.1:p.Ala85Val
ENST00000402722.5:c.219C>T	ENSP00000386000.1:p.Cys73=
ENST00000403262.6:c.254C>T	ENSP00000385671.1:p.Ala85Val
ENST00000405076.5:c.186+289C>T	ENSP00000385175.1:n.186+289C>T
ENST00000405983.5:c.299C>T	ENSP00000384586.1:p.Ala100Val
ENST00000415514.5:c.*55C>T	ENSP00000388043.1:n.*55C>T
ENST00000426513.6:c.219C>T	ENSP00000403824.2:p.Cys73=
ENST00000428910.5:c.176C>T	ENSP00000405235.1:p.Ala59Val
ENST00000430991.5:c.184C>T
ENST00000475085.1:n.282C>T
ENST00000616446.1:n.231C>T
ENST00000616707.1:n.683C>T
ENST00000617583.4:n.280C>T
ENST00000621183.4:n.310C>T
ENST00000621470.4:n.270C>T
ENST00000622003.4:n.427C>T
NM_002437.4:c.254C>T	NP_002428.1:p.Ala85Val
XM_005264326.2:c.254C>T	XP_005264383.1:p.Ala85Val
XM_005264327.2:c.95C>T	XP_005264384.1:p.Ala32Val
XM_006712021.2:c.206C>T	XP_006712084.1:p.Ala69Val
XM_005264326.4:c.254C>T	XP_005264383.1:p.Ala85Val
XM_006712021.3:c.206C>T	XP_006712084.1:p.Ala69Val
XM_017004150.1:c.236C>T	XP_016859639.1:p.Ala79Val
XM_017004151.1:c.206C>T	XP_016859640.1:p.Ala69Val
XM_017004152.1:c.95C>T	XP_016859641.1:p.Ala32Val
XM_024452913.1:c.206C>T	XP_024308681.1:p.Ala69Val
NM_002437.5:c.254C>T MANE Select	NP_002428.1:p.Ala85Val