Canonical Allele Identifier: CA1575463

Gene: MPV17

Linked Data

• dbSNP Id: rs779551551
• ExAC: 2:27532790 T / C
• gnomAD v2: 2-27532790-T-C
• gnomAD v3: 2-27309922-T-C
• gnomAD v4: 2-27309922-T-C
• MyVariant Identifiers: chr2:g.27532790T>C (hg19) ; chr2:g.27309922T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27309922T>C , CM000664.2:g.27309922T>C	GRCh38
NC_000002.11:g.27532790T>C , CM000664.1:g.27532790T>C	GRCh37
NC_000002.10:g.27386294T>C	NCBI36
NG_008075.1:g.17642A>G
NG_033055.1:g.3341A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380044.6:c.521A>G MANE Select	ENSP00000369383.1:p.His174Arg
ENST00000233545.6:c.521A>G	ENSP00000233545.2:p.His174Arg
ENST00000357186.10:c.353A>G	ENSP00000349713.6:p.His118Arg
ENST00000380044.5:c.521A>G	ENSP00000369383.1:p.His174Arg
ENST00000402310.5:c.468A>G	ENSP00000383955.1:p.Thr156=
ENST00000402722.5:c.*100A>G	ENSP00000386000.1:n.*100A>G
ENST00000405076.5:c.332A>G	ENSP00000385175.1:p.His111Arg
ENST00000405983.5:c.566A>G	ENSP00000384586.1:p.His189Arg
ENST00000415514.5:c.*322A>G	ENSP00000388043.1:n.*322A>G
ENST00000426513.6:c.*186A>G	ENSP00000403824.2:n.*186A>G
ENST00000430991.5:c.355A>G
ENST00000620797.4:n.194A>G
ENST00000621183.4:n.824A>G
NM_002437.4:c.521A>G	NP_002428.1:p.His174Arg
XM_005264326.2:c.521A>G	XP_005264383.1:p.His174Arg
XM_005264327.2:c.362A>G	XP_005264384.1:p.His121Arg
XM_006712021.2:c.473A>G	XP_006712084.1:p.His158Arg
XM_005264326.4:c.521A>G	XP_005264383.1:p.His174Arg
XM_006712021.3:c.473A>G	XP_006712084.1:p.His158Arg
XM_017004150.1:c.503A>G	XP_016859639.1:p.His168Arg
XM_017004151.1:c.473A>G	XP_016859640.1:p.His158Arg
XM_017004152.1:c.362A>G	XP_016859641.1:p.His121Arg
XM_024452913.1:c.473A>G	XP_024308681.1:p.His158Arg
NM_002437.5:c.521A>G MANE Select	NP_002428.1:p.His174Arg