Canonical Allele Identifier: CA346205323

Gene: MPV17

Linked Data

• ClinVar Variation Id: 1157379
• ClinVar RCV Id: RCV001500398
• dbSNP Id: rs374686068
• gnomAD v2: 2-27532788-G-T
• gnomAD v4: 2-27309920-G-T
• MyVariant Identifiers: chr2:g.27532788G>T (hg19) ; chr2:g.27309920G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27309920G>T , CM000664.2:g.27309920G>T	GRCh38
NC_000002.11:g.27532788G>T , CM000664.1:g.27532788G>T	GRCh37
NC_000002.10:g.27386292G>T	NCBI36
NG_008075.1:g.17644C>A
NG_033055.1:g.3343C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380044.6:c.523C>A MANE Select	ENSP00000369383.1:p.Arg175=
ENST00000233545.6:c.523C>A	ENSP00000233545.2:p.Arg175=
ENST00000357186.10:c.355C>A	ENSP00000349713.6:p.Arg119=
ENST00000380044.5:c.523C>A	ENSP00000369383.1:p.Arg175=
ENST00000402310.5:c.470C>A	ENSP00000383955.1:p.Ser157Ter
ENST00000402722.5:c.*102C>A	ENSP00000386000.1:n.*102C>A
ENST00000405076.5:c.334C>A	ENSP00000385175.1:p.Arg112=
ENST00000405983.5:c.568C>A	ENSP00000384586.1:p.Arg190=
ENST00000415514.5:c.*324C>A	ENSP00000388043.1:n.*324C>A
ENST00000426513.6:c.*188C>A	ENSP00000403824.2:n.*188C>A
ENST00000430991.5:c.357C>A
ENST00000620797.4:n.196C>A
ENST00000621183.4:n.826C>A
NM_002437.4:c.523C>A	NP_002428.1:p.Arg175=
XM_005264326.2:c.523C>A	XP_005264383.1:p.Arg175=
XM_005264327.2:c.364C>A	XP_005264384.1:p.Arg122=
XM_006712021.2:c.475C>A	XP_006712084.1:p.Arg159=
XM_005264326.4:c.523C>A	XP_005264383.1:p.Arg175=
XM_006712021.3:c.475C>A	XP_006712084.1:p.Arg159=
XM_017004150.1:c.505C>A	XP_016859639.1:p.Arg169=
XM_017004151.1:c.475C>A	XP_016859640.1:p.Arg159=
XM_017004152.1:c.364C>A	XP_016859641.1:p.Arg122=
XM_024452913.1:c.475C>A	XP_024308681.1:p.Arg159=
NM_002437.5:c.523C>A MANE Select	NP_002428.1:p.Arg175=