Canonical Allele Identifier: CA368188670

Gene: PEX1

Linked Data

• gnomAD v4: 7-92510944-T-G
• MyVariant Identifiers: chr7:g.92140258T>G (hg19) ; chr7:g.92510944T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92510944T>G , CM000669.2:g.92510944T>G	GRCh38
NC_000007.13:g.92140258T>G , CM000669.1:g.92140258T>G	GRCh37
NC_000007.12:g.91978194T>G	NCBI36
NG_008341.1:g.22588A>C
NG_008341.2:g.22588A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.1587A>C MANE Select	ENSP00000248633.4:p.Gln529His
ENST00000248633.8:c.1587A>C	ENSP00000248633.4:p.Gln529His
ENST00000422866.1:c.488A>C
ENST00000428214.5:c.1587A>C	ENSP00000394413.1:p.Gln529His
ENST00000438045.5:c.621A>C	ENSP00000410438.1:p.Gln207His
ENST00000476923.1:n.348A>C
ENST00000484913.5:n.1626A>C
NM_000466.2:c.1587A>C	NP_000457.1:p.Gln529His
NM_001282677.1:c.1587A>C	NP_001269606.1:p.Gln529His
NM_001282678.1:c.963A>C	NP_001269607.1:p.Gln321His
XM_005250433.3:c.-80A>C	XP_005250490.1:n.-80A>C
XR_242246.3:n.1683A>C
XM_017012319.2:c.-80A>C	XP_016867808.1:n.-80A>C
XR_001744808.2:n.697A>C
XR_242246.5:n.1634A>C
NM_000466.3:c.1587A>C MANE Select	NP_000457.1:p.Gln529His
NM_001282677.2:c.1587A>C	NP_001269606.1:p.Gln529His
NM_001282678.2:c.963A>C	NP_001269607.1:p.Gln321His