Canonical Allele Identifier: CA4341542

Gene: PEX1

Linked Data

• dbSNP Id: rs772798089
• ExAC: 7:92147047 T / G
• gnomAD v2: 7-92147047-T-G
• gnomAD v4: 7-92517733-T-G
• MyVariant Identifiers: chr7:g.92147047T>G (hg19) ; chr7:g.92517733T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92517733T>G , CM000669.2:g.92517733T>G	GRCh38
NC_000007.13:g.92147047T>G , CM000669.1:g.92147047T>G	GRCh37
NC_000007.12:g.91984983T>G	NCBI36
NG_008341.1:g.15799A>C
NG_008341.2:g.15799A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.782A>C MANE Select	ENSP00000248633.4:p.Gln261Pro
ENST00000248633.8:c.782A>C	ENSP00000248633.4:p.Gln261Pro
ENST00000428214.5:c.782A>C	ENSP00000394413.1:p.Gln261Pro
ENST00000438045.5:c.274-3766A>C	ENSP00000410438.1:n.274-3766A>C
ENST00000484913.5:n.821A>C
NM_000466.2:c.782A>C	NP_000457.1:p.Gln261Pro
NM_001282677.1:c.782A>C	NP_001269606.1:p.Gln261Pro
NM_001282678.1:c.158A>C	NP_001269607.1:p.Gln53Pro
XR_242246.3:n.878A>C
XR_242246.5:n.829A>C
NM_000466.3:c.782A>C MANE Select	NP_000457.1:p.Gln261Pro
NM_001282677.2:c.782A>C	NP_001269606.1:p.Gln261Pro
NM_001282678.2:c.158A>C	NP_001269607.1:p.Gln53Pro