Canonical Allele Identifier: CA129142

Gene: PEX16

Linked Data

• ClinVar Variation Id: 30352
• ClinVar RCV Id: RCV000023295
• dbSNP Id: rs397514472
• MyVariant Identifiers: chr11:g.45931824T>C (hg19) ; chr11:g.45910273T>C (hg38)
• PubMed: PMID:20647552

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.45910273T>C , CM000673.2:g.45910273T>C	GRCh38
NC_000011.9:g.45931824T>C , CM000673.1:g.45931824T>C	GRCh37
NC_000011.8:g.45888400T>C	NCBI36
NG_008460.1:g.12851A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000378750.10:c.992A>G MANE Select	ENSP00000368024.5:p.Tyr331Cys
ENST00000241041.7:c.953-96A>G	ENSP00000241041.3:n.953-96A>G
ENST00000378750.9:c.992A>G	ENSP00000368024.5:p.Tyr331Cys
ENST00000523721.2:n.222A>G
ENST00000532681.5:c.707A>G	ENSP00000434654.1:p.Tyr236Cys
NM_004813.2:c.992A>G	NP_004804.1:p.Tyr331Cys
NM_057174.2:c.953-96A>G	NP_476515.1:n.953-96A>G
XM_011520474.1:c.869A>G	XP_011518776.1:p.Tyr290Cys
NM_004813.3:c.992A>G	NP_004804.1:p.Tyr331Cys
NM_004813.4:c.992A>G MANE Select	NP_004804.2:p.Tyr331Cys
NM_057174.3:c.953-96A>G	NP_476515.2:n.953-96A>G