Canonical Allele Identifier: CA10634959

Gene: PEX16

Linked Data

• ClinVar Variation Id: 304796
• ClinVar RCV Id: RCV000390073 ; RCV002520721
• dbSNP Id: rs886048328
• gnomAD v4: 11-45915714-G-A
• MyVariant Identifiers: chr11:g.45937265G>A (hg19) ; chr11:g.45915714G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.45915714G>A , CM000673.2:g.45915714G>A	GRCh38
NC_000011.9:g.45937265G>A , CM000673.1:g.45937265G>A	GRCh37
NC_000011.8:g.45893841G>A	NCBI36
NG_008460.1:g.7410C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378750.10:c.348C>T MANE Select	ENSP00000368024.5:p.Val116=
ENST00000241041.7:c.348C>T	ENSP00000241041.3:p.Val116=
ENST00000378750.9:c.348C>T	ENSP00000368024.5:p.Val116=
ENST00000525192.5:c.63C>T	ENSP00000431309.1:p.Val21=
ENST00000525229.5:c.*301C>T	ENSP00000431132.1:n.*301C>T
ENST00000528674.5:c.*247C>T	ENSP00000434060.1:n.*247C>T
ENST00000529030.1:c.*333C>T	ENSP00000432486.1:n.*333C>T
ENST00000532554.5:n.131-146C>T
ENST00000532681.5:c.63C>T	ENSP00000434654.1:p.Val21=
ENST00000533151.5:c.149-1030C>T	ENSP00000433045.1:n.149-1030C>T
NM_004813.2:c.348C>T	NP_004804.1:p.Ile116=
NM_057174.2:c.348C>T	NP_476515.1:p.Ile116=
XM_011520474.1:c.225C>T	XP_011518776.1:p.Val75=
NM_004813.3:c.348C>T	NP_004804.1:p.Ile116=
NM_004813.4:c.348C>T MANE Select	NP_004804.2:p.Val116=
NM_057174.3:c.348C>T	NP_476515.2:p.Val116=