Canonical Allele Identifier: CA346209226

Gene: MPV17

Linked Data

• MyVariant Identifiers: chr2:g.27535887T>A (hg19) ; chr2:g.27313020T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27313020T>A , CM000664.2:g.27313020T>A	GRCh38
NC_000002.11:g.27535887T>A , CM000664.1:g.27535887T>A	GRCh37
NC_000002.10:g.27389391T>A	NCBI36
NG_008075.1:g.14545A>T
NG_033055.1:g.244A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380044.6:c.160A>T MANE Select	ENSP00000369383.1:p.Met54Leu
ENST00000233545.6:c.160A>T	ENSP00000233545.2:p.Met54Leu
ENST00000357186.10:c.19-248A>T	ENSP00000349713.6:n.19-248A>T
ENST00000380044.5:c.160A>T	ENSP00000369383.1:p.Met54Leu
ENST00000402310.5:c.160A>T	ENSP00000383955.1:p.Met54Leu
ENST00000402722.5:c.125A>T	ENSP00000386000.1:p.His42Leu
ENST00000403262.6:c.160A>T	ENSP00000385671.1:p.Met54Leu
ENST00000405076.5:c.160A>T	ENSP00000385175.1:p.Met54Leu
ENST00000405983.5:c.205A>T	ENSP00000384586.1:p.Met69Leu
ENST00000415514.5:c.228-248A>T	ENSP00000388043.1:n.228-248A>T
ENST00000426513.6:c.125A>T	ENSP00000403824.2:p.His42Leu
ENST00000428910.5:c.82A>T	ENSP00000405235.1:p.Met28Leu
ENST00000430991.5:c.90A>T
ENST00000616446.1:n.137A>T
ENST00000616707.1:n.368A>T
ENST00000617583.4:n.186A>T
ENST00000621183.4:n.216A>T
ENST00000621470.4:n.176A>T
ENST00000622003.4:n.333A>T
NM_002437.4:c.160A>T	NP_002428.1:p.Met54Leu
XM_005264326.2:c.160A>T	XP_005264383.1:p.Met54Leu
XM_005264327.2:c.1A>T	XP_005264384.1:p.Met1Leu
XM_006712021.2:c.112A>T	XP_006712084.1:p.Met38Leu
XM_005264326.4:c.160A>T	XP_005264383.1:p.Met54Leu
XM_006712021.3:c.112A>T	XP_006712084.1:p.Met38Leu
XM_017004150.1:c.142A>T	XP_016859639.1:p.Met48Leu
XM_017004151.1:c.112A>T	XP_016859640.1:p.Met38Leu
XM_017004152.1:c.1A>T	XP_016859641.1:p.Met1Leu
XM_024452913.1:c.112A>T	XP_024308681.1:p.Met38Leu
NM_002437.5:c.160A>T MANE Select	NP_002428.1:p.Met54Leu