Canonical Allele Identifier: CA456483698

Gene: PEX1

Linked Data

• gnomAD v4: 7-92510956-C-T
• MyVariant Identifiers: chr7:g.92140270C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92510956C>T , CM000669.2:g.92510956C>T	GRCh38
NC_000007.13:g.92140270C>T , CM000669.1:g.92140270C>T	GRCh37
NC_000007.12:g.91978206C>T	NCBI36
NG_008341.1:g.22576G>A
NG_008341.2:g.22576G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.1575G>A MANE Select	ENSP00000248633.4:p.Lys525=
ENST00000248633.8:c.1575G>A	ENSP00000248633.4:p.Lys525=
ENST00000422866.1:c.476G>A
ENST00000428214.5:c.1575G>A	ENSP00000394413.1:p.Lys525=
ENST00000438045.5:c.609G>A	ENSP00000410438.1:p.Lys203=
ENST00000476923.1:n.336G>A
ENST00000484913.5:n.1614G>A
NM_000466.2:c.1575G>A	NP_000457.1:p.Lys525=
NM_001282677.1:c.1575G>A	NP_001269606.1:p.Lys525=
NM_001282678.1:c.951G>A	NP_001269607.1:p.Lys317=
XM_005250433.3:c.-92G>A	XP_005250490.1:n.-92G>A
XR_242246.3:n.1671G>A
XM_017012319.2:c.-92G>A	XP_016867808.1:n.-92G>A
XR_001744808.2:n.685G>A
XR_242246.5:n.1622G>A
NM_000466.3:c.1575G>A MANE Select	NP_000457.1:p.Lys525=
NM_001282677.2:c.1575G>A	NP_001269606.1:p.Lys525=
NM_001282678.2:c.951G>A	NP_001269607.1:p.Lys317=