Canonical Allele Identifier: CA1055617

Gene: PEX11B

Linked Data

• ClinVar Variation Id: 286117
• ClinVar RCV Id: RCV000398482
• dbSNP Id: rs148000769
• ExAC: 1:145522622 A / G
• gnomAD v2: 1-145522622-A-G
• gnomAD v3: 1-145912458-T-C
• gnomAD v4: 1-145912458-T-C
• MyVariant Identifiers: chr1:g.145522622A>G (hg19) ; chr1:g.145912458T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.145912458T>C , CM000663.2:g.145912458T>C	GRCh38
NC_000001.10:g.145522622A>G , CM000663.1:g.145522622A>G	GRCh37
NC_000001.9:g.144233979A>G	NCBI36
NG_033000.3:g.11467A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369306.8:c.483A>G MANE Select	ENSP00000358312.3:p.Gly161=
ENST00000369306.7:c.483A>G	ENSP00000358312.3:p.Gly161=
ENST00000537888.1:c.441A>G	ENSP00000437510.1:p.Gly147=
NM_001184795.1:c.441A>G	NP_001171724.1:p.Gly147=
NM_003846.2:c.483A>G	NP_003837.1:p.Gly161=
NR_073491.1:n.715A>G
NR_073492.1:n.709A>G
NR_073493.2:n.931A>G
NM_003846.3:c.483A>G MANE Select	NP_003837.1:p.Gly161=
NR_073491.2:n.508A>G
NR_073492.2:n.502A>G