Canonical Allele Identifier: CA341385
Gene: MPV17 HGNC NCBI

Linked Data

ClinVar Variation Id: 16165
ClinVar RCV Id: RCV000017548
dbSNP Id: rs121909725

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.27322448C>A , CM000664.2:g.27322448C>A GRCh38
NC_000002.11:g.27545315C>A , CM000664.1:g.27545315C>A GRCh37
NC_000002.10:g.27398819C>A NCBI36
NG_008075.1:g.5117G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000380044.6:c.70G>T MANE Select ENSP00000369383.1:p.Gly24Trp
ENST00000233545.6:c.70G>T ENSP00000233545.2:p.Gly24Trp
ENST00000357186.10:c.18+1985G>T ENSP00000349713.6:n.18+1985G>T
ENST00000380044.5:c.70G>T ENSP00000369383.1:p.Gly24Trp
ENST00000399052.8:c.70G>T ENSP00000382006.4:p.Asp24Tyr
ENST00000402310.5:c.70G>T ENSP00000383955.1:p.Gly24Trp
ENST00000402722.5:c.70G>T ENSP00000386000.1:p.Ala24Ser
ENST00000403262.6:c.70G>T ENSP00000385671.1:p.Gly24Trp
ENST00000405076.5:c.70G>T ENSP00000385175.1:p.Gly24Trp
ENST00000405983.5:c.70G>T ENSP00000384586.1:p.Ala24Ser
ENST00000415514.5:c.70G>T ENSP00000388043.1:p.Asp24Tyr
ENST00000426513.6:c.70G>T ENSP00000403824.2:p.Ala24Ser
ENST00000428910.5:c.-133G>T ENSP00000405235.1:n.-133G>T
ENST00000486898.1:n.121G>T
ENST00000494436.1:n.101G>T
ENST00000617583.4:n.96G>T
ENST00000621183.4:n.126G>T
ENST00000621470.4:n.121G>T
ENST00000622003.4:n.86G>T
NM_002437.4:c.70G>T NP_002428.1:p.Gly24Trp
XM_005264326.2:c.70G>T XP_005264383.1:p.Gly24Trp
XM_005264327.2:c.-55G>T XP_005264384.1:n.-55G>T
XM_006712021.2:c.-136G>T XP_006712084.1:n.-136G>T
XM_005264326.4:c.70G>T XP_005264383.1:p.Gly24Trp
XM_006712021.3:c.-136G>T XP_006712084.1:n.-136G>T
XM_017004150.1:c.-3183G>T XP_016859639.1:n.-3183G>T
XM_017004151.1:c.-75G>T XP_016859640.1:n.-75G>T
XM_017004152.1:c.-212G>T XP_016859641.1:n.-212G>T
XM_024452913.1:c.-136G>T XP_024308681.1:n.-136G>T
NM_002437.5:c.70G>T MANE Select NP_002428.1:p.Gly24Trp