Canonical Allele Identifier: CA10613497
Gene: MPV17 HGNC NCBI

Linked Data

ClinVar Variation Id: 335521
dbSNP Id: rs144697795
gnomAD v3: 2-27309565-G-A
gnomAD v4: 2-27309565-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.27309565G>A , CM000664.2:g.27309565G>A GRCh38
NC_000002.11:g.27532433G>A , CM000664.1:g.27532433G>A GRCh37
NC_000002.10:g.27385937G>A NCBI36
NG_008075.1:g.17999C>T
NG_033055.1:g.3698C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000380044.6:c.*347C>T MANE Select ENSP00000369383.1:n.*347C>T
ENST00000233545.6:c.*347C>T ENSP00000233545.2:n.*347C>T
ENST00000357186.10:c.*347C>T ENSP00000349713.6:n.*347C>T
ENST00000380044.5:c.*347C>T ENSP00000369383.1:n.*347C>T
ENST00000402310.5:c.*312C>T ENSP00000383955.1:n.*312C>T
ENST00000402722.5:c.*457C>T ENSP00000386000.1:n.*457C>T
ENST00000426513.6:c.*543C>T ENSP00000403824.2:n.*543C>T
ENST00000620797.4:n.551C>T
NM_002437.4:c.*347C>T NP_002428.1:n.*347C>T
XM_005264326.2:c.*347C>T XP_005264383.1:n.*347C>T
XM_005264327.2:c.*347C>T XP_005264384.1:n.*347C>T
XM_006712021.2:c.*347C>T XP_006712084.1:n.*347C>T
XM_005264326.4:c.*347C>T XP_005264383.1:n.*347C>T
XM_006712021.3:c.*347C>T XP_006712084.1:n.*347C>T
XM_017004150.1:c.*347C>T XP_016859639.1:n.*347C>T
XM_017004151.1:c.*347C>T XP_016859640.1:n.*347C>T
XM_017004152.1:c.*347C>T XP_016859641.1:n.*347C>T
XM_024452913.1:c.*347C>T XP_024308681.1:n.*347C>T
NM_002437.5:c.*347C>T MANE Select NP_002428.1:n.*347C>T