Canonical Allele Identifier: CA16617524

Gene: MPV17

Linked Data

• ClinVar Variation Id: 418311
• ClinVar RCV Id: RCV000485587 ; RCV000625516 ; RCV003470524
• dbSNP Id: rs886044113
• MyVariant Identifiers: chr2:g.27534767C>A (hg19) ; chr2:g.27311899C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27311899C>A , CM000664.2:g.27311899C>A	GRCh38
NC_000002.11:g.27534767C>A , CM000664.1:g.27534767C>A	GRCh37
NC_000002.10:g.27388271C>A	NCBI36
NG_008075.1:g.15665G>T
NG_033055.1:g.1364G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380044.6:c.461G>T MANE Select	ENSP00000369383.1:p.Arg154Met
ENST00000233545.6:c.461G>T	ENSP00000233545.2:p.Arg154Met
ENST00000357186.10:c.293G>T	ENSP00000349713.6:p.Arg98Met
ENST00000380044.5:c.461G>T	ENSP00000369383.1:p.Arg154Met
ENST00000402310.5:c.408+315G>T	ENSP00000383955.1:n.408+315G>T
ENST00000402722.5:c.*40+595G>T	ENSP00000386000.1:n.*40+595G>T
ENST00000403262.6:c.461G>T	ENSP00000385671.1:p.Arg154Met
ENST00000405076.5:c.272G>T	ENSP00000385175.1:p.Arg91Met
ENST00000405983.5:c.506G>T	ENSP00000384586.1:p.Arg169Met
ENST00000415514.5:c.*262G>T	ENSP00000388043.1:n.*262G>T
ENST00000426513.6:c.*126G>T	ENSP00000403824.2:n.*126G>T
ENST00000430991.5:c.295G>T
ENST00000616707.1:n.1489G>T
ENST00000620797.4:n.134G>T
ENST00000621183.4:n.764G>T
NM_002437.4:c.461G>T	NP_002428.1:p.Arg154Met
XM_005264326.2:c.461G>T	XP_005264383.1:p.Arg154Met
XM_005264327.2:c.302G>T	XP_005264384.1:p.Arg101Met
XM_006712021.2:c.413G>T	XP_006712084.1:p.Arg138Met
XM_005264326.4:c.461G>T	XP_005264383.1:p.Arg154Met
XM_006712021.3:c.413G>T	XP_006712084.1:p.Arg138Met
XM_017004150.1:c.443G>T	XP_016859639.1:p.Arg148Met
XM_017004151.1:c.413G>T	XP_016859640.1:p.Arg138Met
XM_017004152.1:c.302G>T	XP_016859641.1:p.Arg101Met
XM_024452913.1:c.413G>T	XP_024308681.1:p.Arg138Met
NM_002437.5:c.461G>T MANE Select	NP_002428.1:p.Arg154Met