Canonical Allele Identifier: CA346209446

Gene: MPV17

Linked Data

• MyVariant Identifiers: chr2:g.27535937A>T (hg19) ; chr2:g.27313070A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27313070A>T , CM000664.2:g.27313070A>T	GRCh38
NC_000002.11:g.27535937A>T , CM000664.1:g.27535937A>T	GRCh37
NC_000002.10:g.27389441A>T	NCBI36
NG_008075.1:g.14495T>A
NG_033055.1:g.194T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380044.6:c.110T>A MANE Select	ENSP00000369383.1:p.Leu37Gln
ENST00000233545.6:c.110T>A	ENSP00000233545.2:p.Leu37Gln
ENST00000357186.10:c.19-298T>A	ENSP00000349713.6:n.19-298T>A
ENST00000380044.5:c.110T>A	ENSP00000369383.1:p.Leu37Gln
ENST00000402310.5:c.110T>A	ENSP00000383955.1:p.Leu37Gln
ENST00000402722.5:c.75T>A	ENSP00000386000.1:p.Ala25=
ENST00000403262.6:c.110T>A	ENSP00000385671.1:p.Leu37Gln
ENST00000405076.5:c.110T>A	ENSP00000385175.1:p.Leu37Gln
ENST00000405983.5:c.155T>A	ENSP00000384586.1:p.Leu52Gln
ENST00000415514.5:c.228-298T>A	ENSP00000388043.1:n.228-298T>A
ENST00000426513.6:c.75T>A	ENSP00000403824.2:p.Ala25=
ENST00000428910.5:c.32T>A	ENSP00000405235.1:p.Leu11Gln
ENST00000430991.5:c.40T>A
ENST00000616446.1:n.87T>A
ENST00000616707.1:n.318T>A
ENST00000617583.4:n.136T>A
ENST00000621183.4:n.166T>A
ENST00000621470.4:n.126T>A
ENST00000622003.4:n.283T>A
NM_002437.4:c.110T>A	NP_002428.1:p.Leu37Gln
XM_005264326.2:c.110T>A	XP_005264383.1:p.Leu37Gln
XM_005264327.2:c.-50T>A	XP_005264384.1:n.-50T>A
XM_006712021.2:c.62T>A	XP_006712084.1:p.Leu21Gln
XM_005264326.4:c.110T>A	XP_005264383.1:p.Leu37Gln
XM_006712021.3:c.62T>A	XP_006712084.1:p.Leu21Gln
XM_017004150.1:c.92T>A	XP_016859639.1:p.Leu31Gln
XM_017004151.1:c.62T>A	XP_016859640.1:p.Leu21Gln
XM_017004152.1:c.-50T>A	XP_016859641.1:n.-50T>A
XM_024452913.1:c.62T>A	XP_024308681.1:p.Leu21Gln
NM_002437.5:c.110T>A MANE Select	NP_002428.1:p.Leu37Gln