Canonical Allele Identifier: CA161973600

Gene: PEX1

Linked Data

• ClinVar Variation Id: 2181231
• ClinVar RCV Id: RCV002606039
• dbSNP Id: rs745421141
• gnomAD v3: 7-92517664-T-C
• gnomAD v4: 7-92517664-T-C
• MyVariant Identifiers: chr7:g.92146978T>C (hg19) ; chr7:g.92517664T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92517664T>C , CM000669.2:g.92517664T>C	GRCh38
NC_000007.13:g.92146978T>C , CM000669.1:g.92146978T>C	GRCh37
NC_000007.12:g.91984914T>C	NCBI36
NG_008341.1:g.15868A>G
NG_008341.2:g.15868A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.851A>G MANE Select	ENSP00000248633.4:p.Asp284Gly
ENST00000248633.8:c.851A>G	ENSP00000248633.4:p.Asp284Gly
ENST00000428214.5:c.851A>G	ENSP00000394413.1:p.Asp284Gly
ENST00000438045.5:c.274-3697A>G	ENSP00000410438.1:n.274-3697A>G
ENST00000484913.5:n.890A>G
NM_000466.2:c.851A>G	NP_000457.1:p.Asp284Gly
NM_001282677.1:c.851A>G	NP_001269606.1:p.Asp284Gly
NM_001282678.1:c.227A>G	NP_001269607.1:p.Asp76Gly
XR_242246.3:n.947A>G
XR_242246.5:n.898A>G
NM_000466.3:c.851A>G MANE Select	NP_000457.1:p.Asp284Gly
NM_001282677.2:c.851A>G	NP_001269606.1:p.Asp284Gly
NM_001282678.2:c.227A>G	NP_001269607.1:p.Asp76Gly