Canonical Allele Identifier: CA5960071
Gene: PEX16 HGNC NCBI
MyVariant.info:
GRCh38 chr11:g.45916272G>A
GRCh37 chr11:g.45937823G>A
gnomAD v2:
11:45937823 G / A
gnomAD v3:
11:45916272 G / A
gnomAD v4:
chr11-45916272-G-A
Joint Max Group AF 0.00002585 (NFE)
Genomes Max Group AF 0.00001171 (NFE)
Exomes Max Group AF 0.0000254 (NFE)
ClinVar RCV:
RCV000596590
RCV001459174
ClinVar Variation:
499390
dbSNP:
779326282
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.45916272G>A , CM000673.2:g.45916272G>A GRCh38
NC_000011.9:g.45937823G>A , CM000673.1:g.45937823G>A GRCh37
NC_000011.8:g.45894399G>A NCBI36
NG_008460.1:g.6852C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000378750.10:c.180C>T MANE Select ENSP00000368024.5:p.Leu60=
ENST00000241041.7:c.180C>T ENSP00000241041.3:p.Leu60=
ENST00000378750.9:c.180C>T ENSP00000368024.5:p.Leu60=
ENST00000525192.5:c.-106C>T ENSP00000431309.1:n.-106C>T
ENST00000525229.5:c.*133C>T ENSP00000431132.1:n.*133C>T
ENST00000528674.5:c.*79C>T ENSP00000434060.1:n.*79C>T
ENST00000529030.1:c.*165C>T ENSP00000432486.1:n.*165C>T
ENST00000532554.5:n.131-704C>T
ENST00000532681.5:c.-106C>T ENSP00000434654.1:n.-106C>T
ENST00000533151.5:c.148+1186C>T ENSP00000433045.1:n.148+1186C>T
NM_004813.2:c.180C>T NP_004804.1:p.Leu60=
NM_057174.2:c.180C>T NP_476515.1:p.Leu60=
XM_011520474.1:c.57C>T XP_011518776.1:p.Leu19=
NM_004813.3:c.180C>T NP_004804.1:p.Leu60=
NM_004813.4:c.180C>T MANE Select NP_004804.2:p.Leu60=
NM_057174.3:c.180C>T NP_476515.2:p.Leu60=
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