Canonical Allele Identifier: CA1575460

Gene: MPV17

Linked Data

• ClinVar Variation Id: 2179934
• ClinVar RCV Id: RCV002615303
• dbSNP Id: rs779425887
• ExAC: 2:27532784 A / G
• gnomAD v2: 2-27532784-A-G
• gnomAD v3: 2-27309916-A-G
• gnomAD v4: 2-27309916-A-G
• MyVariant Identifiers: chr2:g.27532784A>G (hg19) ; chr2:g.27309916A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27309916A>G , CM000664.2:g.27309916A>G	GRCh38
NC_000002.11:g.27532784A>G , CM000664.1:g.27532784A>G	GRCh37
NC_000002.10:g.27386288A>G	NCBI36
NG_008075.1:g.17648T>C
NG_033055.1:g.3347T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380044.6:c.527T>C MANE Select	ENSP00000369383.1:p.Leu176Pro
ENST00000233545.6:c.527T>C	ENSP00000233545.2:p.Leu176Pro
ENST00000357186.10:c.359T>C	ENSP00000349713.6:p.Leu120Pro
ENST00000380044.5:c.527T>C	ENSP00000369383.1:p.Leu176Pro
ENST00000402310.5:c.474T>C	ENSP00000383955.1:p.Ala158=
ENST00000402722.5:c.*106T>C	ENSP00000386000.1:n.*106T>C
ENST00000405076.5:c.338T>C	ENSP00000385175.1:p.Leu113Pro
ENST00000405983.5:c.572T>C	ENSP00000384586.1:p.Leu191Pro
ENST00000415514.5:c.*328T>C	ENSP00000388043.1:n.*328T>C
ENST00000426513.6:c.*192T>C	ENSP00000403824.2:n.*192T>C
ENST00000430991.5:c.361T>C
ENST00000620797.4:n.200T>C
ENST00000621183.4:n.830T>C
NM_002437.4:c.527T>C	NP_002428.1:p.Leu176Pro
XM_005264326.2:c.527T>C	XP_005264383.1:p.Leu176Pro
XM_005264327.2:c.368T>C	XP_005264384.1:p.Leu123Pro
XM_006712021.2:c.479T>C	XP_006712084.1:p.Leu160Pro
XM_005264326.4:c.527T>C	XP_005264383.1:p.Leu176Pro
XM_006712021.3:c.479T>C	XP_006712084.1:p.Leu160Pro
XM_017004150.1:c.509T>C	XP_016859639.1:p.Leu170Pro
XM_017004151.1:c.479T>C	XP_016859640.1:p.Leu160Pro
XM_017004152.1:c.368T>C	XP_016859641.1:p.Leu123Pro
XM_024452913.1:c.479T>C	XP_024308681.1:p.Leu160Pro
NM_002437.5:c.527T>C MANE Select	NP_002428.1:p.Leu176Pro