Canonical Allele Identifier: CA346205410

Gene: MPV17

Linked Data

• MyVariant Identifiers: chr2:g.27532821T>C (hg19) ; chr2:g.27309953T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27309953T>C , CM000664.2:g.27309953T>C	GRCh38
NC_000002.11:g.27532821T>C , CM000664.1:g.27532821T>C	GRCh37
NC_000002.10:g.27386325T>C	NCBI36
NG_008075.1:g.17611A>G
NG_033055.1:g.3310A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380044.6:c.490A>G MANE Select	ENSP00000369383.1:p.Ile164Val
ENST00000233545.6:c.490A>G	ENSP00000233545.2:p.Ile164Val
ENST00000357186.10:c.322A>G	ENSP00000349713.6:p.Ile108Val
ENST00000380044.5:c.490A>G	ENSP00000369383.1:p.Ile164Val
ENST00000402310.5:c.437A>G	ENSP00000383955.1:p.Tyr146Cys
ENST00000402722.5:c.*69A>G	ENSP00000386000.1:n.*69A>G
ENST00000405076.5:c.301A>G	ENSP00000385175.1:p.Ile101Val
ENST00000405983.5:c.535A>G	ENSP00000384586.1:p.Ile179Val
ENST00000415514.5:c.*291A>G	ENSP00000388043.1:n.*291A>G
ENST00000426513.6:c.*155A>G	ENSP00000403824.2:n.*155A>G
ENST00000430991.5:c.324A>G
ENST00000620797.4:n.163A>G
ENST00000621183.4:n.793A>G
NM_002437.4:c.490A>G	NP_002428.1:p.Ile164Val
XM_005264326.2:c.490A>G	XP_005264383.1:p.Ile164Val
XM_005264327.2:c.331A>G	XP_005264384.1:p.Ile111Val
XM_006712021.2:c.442A>G	XP_006712084.1:p.Ile148Val
XM_005264326.4:c.490A>G	XP_005264383.1:p.Ile164Val
XM_006712021.3:c.442A>G	XP_006712084.1:p.Ile148Val
XM_017004150.1:c.472A>G	XP_016859639.1:p.Ile158Val
XM_017004151.1:c.442A>G	XP_016859640.1:p.Ile148Val
XM_017004152.1:c.331A>G	XP_016859641.1:p.Ile111Val
XM_024452913.1:c.442A>G	XP_024308681.1:p.Ile148Val
NM_002437.5:c.490A>G MANE Select	NP_002428.1:p.Ile164Val