Canonical Allele Identifier: CA342976
Gene: MPV17 HGNC NCBI

Linked Data

dbSNP Id: rs267607256

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.27312697T>C , CM000664.2:g.27312697T>C GRCh38
NC_000002.11:g.27535564T>C , CM000664.1:g.27535564T>C GRCh37
NC_000002.10:g.27389068T>C NCBI36
NG_008075.1:g.14868A>G
NG_033055.1:g.567A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000380044.6:c.262A>G MANE Select ENSP00000369383.1:p.Lys88Glu
ENST00000233545.6:c.262A>G ENSP00000233545.2:p.Lys88Glu
ENST00000357186.10:c.94A>G ENSP00000349713.6:p.Lys32Glu
ENST00000380044.5:c.262A>G ENSP00000369383.1:p.Lys88Glu
ENST00000402310.5:c.262A>G ENSP00000383955.1:p.Lys88Glu
ENST00000402722.5:c.227A>G ENSP00000386000.1:p.Glu76Gly
ENST00000403262.6:c.262A>G ENSP00000385671.1:p.Lys88Glu
ENST00000405076.5:c.186+297A>G ENSP00000385175.1:n.186+297A>G
ENST00000405983.5:c.307A>G ENSP00000384586.1:p.Lys103Glu
ENST00000415514.5:c.*63A>G ENSP00000388043.1:n.*63A>G
ENST00000426513.6:c.227A>G ENSP00000403824.2:p.Glu76Gly
ENST00000428910.5:c.184A>G ENSP00000405235.1:p.Lys62Glu
ENST00000430991.5:c.192A>G
ENST00000475085.1:n.290A>G
ENST00000616446.1:n.239A>G
ENST00000616707.1:n.691A>G
ENST00000617583.4:n.288A>G
ENST00000621183.4:n.318A>G
ENST00000621470.4:n.278A>G
ENST00000622003.4:n.435A>G
NM_002437.4:c.262A>G NP_002428.1:p.Lys88Glu
XM_005264326.2:c.262A>G XP_005264383.1:p.Lys88Glu
XM_005264327.2:c.103A>G XP_005264384.1:p.Lys35Glu
XM_006712021.2:c.214A>G XP_006712084.1:p.Lys72Glu
XM_005264326.4:c.262A>G XP_005264383.1:p.Lys88Glu
XM_006712021.3:c.214A>G XP_006712084.1:p.Lys72Glu
XM_017004150.1:c.244A>G XP_016859639.1:p.Lys82Glu
XM_017004151.1:c.214A>G XP_016859640.1:p.Lys72Glu
XM_017004152.1:c.103A>G XP_016859641.1:p.Lys35Glu
XM_024452913.1:c.214A>G XP_024308681.1:p.Lys72Glu
NM_002437.5:c.262A>G MANE Select NP_002428.1:p.Lys88Glu