Canonical Allele Identifier: CA1575583

Gene: MPV17

Linked Data

• ClinVar Variation Id: 1800625
• ClinVar RCV Id: RCV002461764
• dbSNP Id: rs766486395
• ExAC: 2:27535362 C / T
• gnomAD v2: 2-27535362-C-T
• gnomAD v3: 2-27312495-C-T
• gnomAD v4: 2-27312495-C-T
• MyVariant Identifiers: chr2:g.27535362C>T (hg19) ; chr2:g.27312495C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27312495C>T , CM000664.2:g.27312495C>T	GRCh38
NC_000002.11:g.27535362C>T , CM000664.1:g.27535362C>T	GRCh37
NC_000002.10:g.27388866C>T	NCBI36
NG_008075.1:g.15070G>A
NG_033055.1:g.769G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000380044.6:c.374G>A MANE Select	ENSP00000369383.1:p.Arg125Gln
ENST00000233545.6:c.374G>A	ENSP00000233545.2:p.Arg125Gln
ENST00000357186.10:c.206G>A	ENSP00000349713.6:p.Arg69Gln
ENST00000380044.5:c.374G>A	ENSP00000369383.1:p.Arg125Gln
ENST00000402310.5:c.374G>A	ENSP00000383955.1:p.Arg125Gln
ENST00000402722.5:c.*39G>A	ENSP00000386000.1:n.*39G>A
ENST00000403262.6:c.374G>A	ENSP00000385671.1:p.Arg125Gln
ENST00000405076.5:c.187-249G>A	ENSP00000385175.1:n.187-249G>A
ENST00000405983.5:c.419G>A	ENSP00000384586.1:p.Arg140Gln
ENST00000415514.5:c.*175G>A	ENSP00000388043.1:n.*175G>A
ENST00000426513.6:c.*39G>A	ENSP00000403824.2:n.*39G>A
ENST00000428910.5:c.296G>A	ENSP00000405235.1:p.Arg99Gln
ENST00000430991.5:c.209+185G>A
ENST00000475085.1:n.402G>A
ENST00000616446.1:n.351G>A
ENST00000616707.1:n.893G>A
ENST00000617583.4:n.400G>A
ENST00000621183.4:n.430G>A
ENST00000621470.4:n.390G>A
ENST00000622003.4:n.547G>A
NM_002437.4:c.374G>A	NP_002428.1:p.Arg125Gln
XM_005264326.2:c.374G>A	XP_005264383.1:p.Arg125Gln
XM_005264327.2:c.215G>A	XP_005264384.1:p.Arg72Gln
XM_006712021.2:c.326G>A	XP_006712084.1:p.Arg109Gln
XM_005264326.4:c.374G>A	XP_005264383.1:p.Arg125Gln
XM_006712021.3:c.326G>A	XP_006712084.1:p.Arg109Gln
XM_017004150.1:c.356G>A	XP_016859639.1:p.Arg119Gln
XM_017004151.1:c.326G>A	XP_016859640.1:p.Arg109Gln
XM_017004152.1:c.215G>A	XP_016859641.1:p.Arg72Gln
XM_024452913.1:c.326G>A	XP_024308681.1:p.Arg109Gln
NM_002437.5:c.374G>A MANE Select	NP_002428.1:p.Arg125Gln