Canonical Allele Identifier: CA1575458
Gene: MPV17 HGNC NCBI

Linked Data

dbSNP Id: rs575952120
gnomAD v2: 2-27532770-T-A
gnomAD v3: 2-27309902-T-A
gnomAD v4: 2-27309902-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.27309902T>A , CM000664.2:g.27309902T>A GRCh38
NC_000002.11:g.27532770T>A , CM000664.1:g.27532770T>A GRCh37
NC_000002.10:g.27386274T>A NCBI36
NG_008075.1:g.17662A>T
NG_033055.1:g.3361A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000380044.6:c.*10A>T MANE Select ENSP00000369383.1:n.*10A>T
ENST00000233545.6:c.*10A>T ENSP00000233545.2:n.*10A>T
ENST00000357186.10:c.*10A>T ENSP00000349713.6:n.*10A>T
ENST00000380044.5:c.*10A>T ENSP00000369383.1:n.*10A>T
ENST00000402310.5:c.488A>T ENSP00000383955.1:p.His163Leu
ENST00000402722.5:c.*120A>T ENSP00000386000.1:n.*120A>T
ENST00000405076.5:c.*10A>T ENSP00000385175.1:n.*10A>T
ENST00000405983.5:c.*10A>T ENSP00000384586.1:n.*10A>T
ENST00000426513.6:c.*206A>T ENSP00000403824.2:n.*206A>T
ENST00000430991.5:c.375A>T
ENST00000620797.4:n.214A>T
ENST00000621183.4:n.844A>T
NM_002437.4:c.*10A>T NP_002428.1:n.*10A>T
XM_005264326.2:c.*10A>T XP_005264383.1:n.*10A>T
XM_005264327.2:c.*10A>T XP_005264384.1:n.*10A>T
XM_006712021.2:c.*10A>T XP_006712084.1:n.*10A>T
XM_005264326.4:c.*10A>T XP_005264383.1:n.*10A>T
XM_006712021.3:c.*10A>T XP_006712084.1:n.*10A>T
XM_017004150.1:c.*10A>T XP_016859639.1:n.*10A>T
XM_017004151.1:c.*10A>T XP_016859640.1:n.*10A>T
XM_017004152.1:c.*10A>T XP_016859641.1:n.*10A>T
XM_024452913.1:c.*10A>T XP_024308681.1:n.*10A>T
NM_002437.5:c.*10A>T MANE Select NP_002428.1:n.*10A>T