Canonical Allele Identifier: CA2576929071
Gene: MPV17 HGNC NCBI

Linked Data

gnomAD v4: 2-27309871-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.27309871G>T , CM000664.2:g.27309871G>T GRCh38
NC_000002.11:g.27532739G>T , CM000664.1:g.27532739G>T GRCh37
NC_000002.10:g.27386243G>T NCBI36
NG_008075.1:g.17693C>A
NG_033055.1:g.3392C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000380044.6:c.*41C>A MANE Select ENSP00000369383.1:n.*41C>A
ENST00000233545.6:c.*41C>A ENSP00000233545.2:n.*41C>A
ENST00000357186.10:c.*41C>A ENSP00000349713.6:n.*41C>A
ENST00000380044.5:c.*41C>A ENSP00000369383.1:n.*41C>A
ENST00000402310.5:c.*6C>A ENSP00000383955.1:n.*6C>A
ENST00000402722.5:c.*151C>A ENSP00000386000.1:n.*151C>A
ENST00000405076.5:c.*41C>A ENSP00000385175.1:n.*41C>A
ENST00000405983.5:c.*41C>A ENSP00000384586.1:n.*41C>A
ENST00000426513.6:c.*237C>A ENSP00000403824.2:n.*237C>A
ENST00000430991.5:c.406C>A
ENST00000620797.4:n.245C>A
ENST00000621183.4:n.875C>A
NM_002437.4:c.*41C>A NP_002428.1:n.*41C>A
XM_005264326.2:c.*41C>A XP_005264383.1:n.*41C>A
XM_005264327.2:c.*41C>A XP_005264384.1:n.*41C>A
XM_006712021.2:c.*41C>A XP_006712084.1:n.*41C>A
XM_005264326.4:c.*41C>A XP_005264383.1:n.*41C>A
XM_006712021.3:c.*41C>A XP_006712084.1:n.*41C>A
XM_017004150.1:c.*41C>A XP_016859639.1:n.*41C>A
XM_017004151.1:c.*41C>A XP_016859640.1:n.*41C>A
XM_017004152.1:c.*41C>A XP_016859641.1:n.*41C>A
XM_024452913.1:c.*41C>A XP_024308681.1:n.*41C>A
NM_002437.5:c.*41C>A MANE Select NP_002428.1:n.*41C>A