Canonical Allele Identifier: CA425605943

Gene: MPV17

Linked Data

• gnomAD v4: 2-27312527-C-T
• MyVariant Identifiers: chr2:g.27535394C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27312527C>T , CM000664.2:g.27312527C>T	GRCh38
NC_000002.11:g.27535394C>T , CM000664.1:g.27535394C>T	GRCh37
NC_000002.10:g.27388898C>T	NCBI36
NG_008075.1:g.15038G>A
NG_033055.1:g.737G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380044.6:c.342G>A MANE Select	ENSP00000369383.1:p.Leu114=
ENST00000233545.6:c.342G>A	ENSP00000233545.2:p.Leu114=
ENST00000357186.10:c.174G>A	ENSP00000349713.6:p.Leu58=
ENST00000380044.5:c.342G>A	ENSP00000369383.1:p.Leu114=
ENST00000402310.5:c.342G>A	ENSP00000383955.1:p.Leu114=
ENST00000402722.5:c.*7G>A	ENSP00000386000.1:n.*7G>A
ENST00000403262.6:c.342G>A	ENSP00000385671.1:p.Leu114=
ENST00000405076.5:c.187-281G>A	ENSP00000385175.1:n.187-281G>A
ENST00000405983.5:c.387G>A	ENSP00000384586.1:p.Leu129=
ENST00000415514.5:c.*143G>A	ENSP00000388043.1:n.*143G>A
ENST00000426513.6:c.*7G>A	ENSP00000403824.2:n.*7G>A
ENST00000428910.5:c.264G>A	ENSP00000405235.1:p.Leu88=
ENST00000430991.5:c.209+153G>A
ENST00000475085.1:n.370G>A
ENST00000616446.1:n.319G>A
ENST00000616707.1:n.861G>A
ENST00000617583.4:n.368G>A
ENST00000621183.4:n.398G>A
ENST00000621470.4:n.358G>A
ENST00000622003.4:n.515G>A
NM_002437.4:c.342G>A	NP_002428.1:p.Leu114=
XM_005264326.2:c.342G>A	XP_005264383.1:p.Leu114=
XM_005264327.2:c.183G>A	XP_005264384.1:p.Leu61=
XM_006712021.2:c.294G>A	XP_006712084.1:p.Leu98=
XM_005264326.4:c.342G>A	XP_005264383.1:p.Leu114=
XM_006712021.3:c.294G>A	XP_006712084.1:p.Leu98=
XM_017004150.1:c.324G>A	XP_016859639.1:p.Leu108=
XM_017004151.1:c.294G>A	XP_016859640.1:p.Leu98=
XM_017004152.1:c.183G>A	XP_016859641.1:p.Leu61=
XM_024452913.1:c.294G>A	XP_024308681.1:p.Leu98=
NM_002437.5:c.342G>A MANE Select	NP_002428.1:p.Leu114=