Canonical Allele Identifier: CA368205260

Gene: PEX1

Linked Data

• gnomAD v4: 7-92522239-C-G
• MyVariant Identifiers: chr7:g.92151553C>G (hg19) ; chr7:g.92522239C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92522239C>G , CM000669.2:g.92522239C>G	GRCh38
NC_000007.13:g.92151553C>G , CM000669.1:g.92151553C>G	GRCh37
NC_000007.12:g.91989489C>G	NCBI36
NG_008341.1:g.11293G>C
NG_008341.2:g.11293G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.136G>C MANE Select	ENSP00000248633.4:p.Ala46Pro
ENST00000248633.8:c.136G>C	ENSP00000248633.4:p.Ala46Pro
ENST00000428214.5:c.136G>C	ENSP00000394413.1:p.Ala46Pro
ENST00000438045.5:c.136G>C	ENSP00000410438.1:p.Ala46Pro
ENST00000484913.5:n.140G>C
NM_000466.2:c.136G>C	NP_000457.1:p.Ala46Pro
NM_001282677.1:c.136G>C	NP_001269606.1:p.Ala46Pro
NM_001282678.1:c.-524G>C	NP_001269607.1:n.-524G>C
XR_242246.3:n.232G>C
XR_242246.5:n.183G>C
NM_000466.3:c.136G>C MANE Select	NP_000457.1:p.Ala46Pro
NM_001282677.2:c.136G>C	NP_001269606.1:p.Ala46Pro
NM_001282678.2:c.-524G>C	NP_001269607.1:n.-524G>C