Canonical Allele Identifier: CA346161218

Gene: MPV17

Linked Data

• MyVariant Identifiers: chr2:g.27545378G>T (hg19) ; chr2:g.27322511G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27322511G>T , CM000664.2:g.27322511G>T	GRCh38
NC_000002.11:g.27545378G>T , CM000664.1:g.27545378G>T	GRCh37
NC_000002.10:g.27398882G>T	NCBI36
NG_008075.1:g.5054C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380044.6:c.7C>A MANE Select	ENSP00000369383.1:p.Leu3Ile
ENST00000233545.6:c.7C>A	ENSP00000233545.2:p.Leu3Ile
ENST00000357186.10:c.18+1922C>A	ENSP00000349713.6:n.18+1922C>A
ENST00000380044.5:c.7C>A	ENSP00000369383.1:p.Leu3Ile
ENST00000399052.8:c.7C>A	ENSP00000382006.4:p.Leu3Ile
ENST00000402310.5:c.7C>A	ENSP00000383955.1:p.Leu3Ile
ENST00000402722.5:c.7C>A	ENSP00000386000.1:p.Leu3Ile
ENST00000403262.6:c.7C>A	ENSP00000385671.1:p.Leu3Ile
ENST00000405076.5:c.7C>A	ENSP00000385175.1:p.Leu3Ile
ENST00000405983.5:c.7C>A	ENSP00000384586.1:p.Leu3Ile
ENST00000415514.5:c.7C>A	ENSP00000388043.1:p.Leu3Ile
ENST00000426513.6:c.7C>A	ENSP00000403824.2:p.Leu3Ile
ENST00000428910.5:c.-196C>A	ENSP00000405235.1:n.-196C>A
ENST00000486898.1:n.58C>A
ENST00000494436.1:n.38C>A
ENST00000617583.4:n.33C>A
ENST00000621183.4:n.63C>A
ENST00000621470.4:n.58C>A
ENST00000622003.4:n.23C>A
NM_002437.4:c.7C>A	NP_002428.1:p.Leu3Ile
XM_005264326.2:c.7C>A	XP_005264383.1:p.Leu3Ile
XM_005264327.2:c.-118C>A	XP_005264384.1:n.-118C>A
XM_006712021.2:c.-199C>A	XP_006712084.1:n.-199C>A
XM_005264326.4:c.7C>A	XP_005264383.1:p.Leu3Ile
XM_006712021.3:c.-199C>A	XP_006712084.1:n.-199C>A
XM_017004150.1:c.-3246C>A	XP_016859639.1:n.-3246C>A
XM_017004151.1:c.-138C>A	XP_016859640.1:n.-138C>A
XM_017004152.1:c.-275C>A	XP_016859641.1:n.-275C>A
XM_024452913.1:c.-199C>A	XP_024308681.1:n.-199C>A
NM_002437.5:c.7C>A MANE Select	NP_002428.1:p.Leu3Ile