Canonical Allele Identifier: CA10587120

Gene: PEX16

Linked Data

• ClinVar Variation Id: 259545
• ClinVar RCV Id: RCV000252785
• dbSNP Id: rs886038553
• MyVariant Identifiers: chr11:g.45937234T>C (hg19) ; chr11:g.45915683T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.45915683T>C , CM000673.2:g.45915683T>C	GRCh38
NC_000011.9:g.45937234T>C , CM000673.1:g.45937234T>C	GRCh37
NC_000011.8:g.45893810T>C	NCBI36
NG_008460.1:g.7441A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378750.10:c.359+20A>G MANE Select	ENSP00000368024.5:n.359+20A>G
ENST00000241041.7:c.359+20A>G	ENSP00000241041.3:n.359+20A>G
ENST00000378750.9:c.359+20A>G	ENSP00000368024.5:n.359+20A>G
ENST00000525192.5:c.74+20A>G	ENSP00000431309.1:n.74+20A>G
ENST00000525229.5:c.*312+20A>G	ENSP00000431132.1:n.*312+20A>G
ENST00000528674.5:c.*258+20A>G	ENSP00000434060.1:n.*258+20A>G
ENST00000532554.5:n.131-115A>G
ENST00000532681.5:c.74+20A>G	ENSP00000434654.1:n.74+20A>G
ENST00000533151.5:c.149-999A>G	ENSP00000433045.1:n.149-999A>G
NM_004813.2:c.359+20A>G	NP_004804.1:n.359+20A>G
NM_057174.2:c.359+20A>G	NP_476515.1:n.359+20A>G
XM_011520474.1:c.236+20A>G	XP_011518776.1:n.236+20A>G
NM_004813.3:c.359+20A>G	NP_004804.1:n.359+20A>G
NM_004813.4:c.359+20A>G MANE Select	NP_004804.2:n.359+20A>G
NM_057174.3:c.359+20A>G	NP_476515.2:n.359+20A>G