Canonical Allele Identifier: CA221584236

Gene: PEX16

Linked Data

• ClinVar Variation Id: 2086845
• ClinVar RCV Id: RCV003015588
• dbSNP Id: rs886850783
• gnomAD v4: 11-45910304-T-C
• MyVariant Identifiers: chr11:g.45931855T>C (hg19) ; chr11:g.45910304T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.45910304T>C , CM000673.2:g.45910304T>C	GRCh38
NC_000011.9:g.45931855T>C , CM000673.1:g.45931855T>C	GRCh37
NC_000011.8:g.45888431T>C	NCBI36
NG_008460.1:g.12820A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378750.10:c.961A>G MANE Select	ENSP00000368024.5:p.Met321Val
ENST00000241041.7:c.953-127A>G	ENSP00000241041.3:n.953-127A>G
ENST00000378750.9:c.961A>G	ENSP00000368024.5:p.Met321Val
ENST00000523721.2:n.191A>G
ENST00000532681.5:c.676A>G	ENSP00000434654.1:p.Met226Val
NM_004813.2:c.961A>G	NP_004804.1:p.Met321Val
NM_057174.2:c.953-127A>G	NP_476515.1:n.953-127A>G
XM_011520474.1:c.838A>G	XP_011518776.1:p.Met280Val
NM_004813.3:c.961A>G	NP_004804.1:p.Met321Val
NM_004813.4:c.961A>G MANE Select	NP_004804.2:p.Met321Val
NM_057174.3:c.953-127A>G	NP_476515.2:n.953-127A>G