Canonical Allele Identifier: CA456624409

Gene: PEX1

Linked Data

• gnomAD v4: 7-92517987-A-C
• MyVariant Identifiers: chr7:g.92147301A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92517987A>C , CM000669.2:g.92517987A>C	GRCh38
NC_000007.13:g.92147301A>C , CM000669.1:g.92147301A>C	GRCh37
NC_000007.12:g.91985237A>C	NCBI36
NG_008341.1:g.15545T>G
NG_008341.2:g.15545T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.528T>G MANE Select	ENSP00000248633.4:p.Leu176=
ENST00000248633.8:c.528T>G	ENSP00000248633.4:p.Leu176=
ENST00000428214.5:c.528T>G	ENSP00000394413.1:p.Leu176=
ENST00000438045.5:c.274-4020T>G	ENSP00000410438.1:n.274-4020T>G
ENST00000484913.5:n.567T>G
NM_000466.2:c.528T>G	NP_000457.1:p.Leu176=
NM_001282677.1:c.528T>G	NP_001269606.1:p.Leu176=
NM_001282678.1:c.-97T>G	NP_001269607.1:n.-97T>G
XR_242246.3:n.624T>G
XR_242246.5:n.575T>G
NM_000466.3:c.528T>G MANE Select	NP_000457.1:p.Leu176=
NM_001282677.2:c.528T>G	NP_001269606.1:p.Leu176=
NM_001282678.2:c.-97T>G	NP_001269607.1:n.-97T>G