Canonical Allele Identifier: CA456624560

Gene: PEX1

Linked Data

• gnomAD v4: 7-92518038-T-A
• MyVariant Identifiers: chr7:g.92147352T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92518038T>A , CM000669.2:g.92518038T>A	GRCh38
NC_000007.13:g.92147352T>A , CM000669.1:g.92147352T>A	GRCh37
NC_000007.12:g.91985288T>A	NCBI36
NG_008341.1:g.15494A>T
NG_008341.2:g.15494A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.477A>T MANE Select	ENSP00000248633.4:p.Ala159=
ENST00000248633.8:c.477A>T	ENSP00000248633.4:p.Ala159=
ENST00000428214.5:c.477A>T	ENSP00000394413.1:p.Ala159=
ENST00000438045.5:c.273+4064A>T	ENSP00000410438.1:n.273+4064A>T
ENST00000484913.5:n.516A>T
NM_000466.2:c.477A>T	NP_000457.1:p.Ala159=
NM_001282677.1:c.477A>T	NP_001269606.1:p.Ala159=
NM_001282678.1:c.-148A>T	NP_001269607.1:n.-148A>T
XR_242246.3:n.573A>T
XR_242246.5:n.524A>T
NM_000466.3:c.477A>T MANE Select	NP_000457.1:p.Ala159=
NM_001282677.2:c.477A>T	NP_001269606.1:p.Ala159=
NM_001282678.2:c.-148A>T	NP_001269607.1:n.-148A>T