Canonical Allele Identifier: CA368178010

Gene: PEX1

Linked Data

• gnomAD v4: 7-92502002-G-T
• MyVariant Identifiers: chr7:g.92131316G>T (hg19) ; chr7:g.92502002G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92502002G>T , CM000669.2:g.92502002G>T	GRCh38
NC_000007.13:g.92131316G>T , CM000669.1:g.92131316G>T	GRCh37
NC_000007.12:g.91969252G>T	NCBI36
NG_008341.1:g.31530C>A
NG_008341.2:g.31530C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.2304C>A MANE Select	ENSP00000248633.4:p.Asp768Glu
ENST00000248633.8:c.2304C>A	ENSP00000248633.4:p.Asp768Glu
ENST00000428214.5:c.2133C>A	ENSP00000394413.1:p.Asp711Glu
ENST00000438045.5:c.1338C>A	ENSP00000410438.1:p.Asp446Glu
ENST00000484913.5:n.2343C>A
ENST00000496092.1:n.102C>A
ENST00000496420.5:n.1980C>A
NM_000466.2:c.2304C>A	NP_000457.1:p.Asp768Glu
NM_001282677.1:c.2133C>A	NP_001269606.1:p.Asp711Glu
NM_001282678.1:c.1680C>A	NP_001269607.1:p.Asp560Glu
XM_005250433.3:c.555C>A	XP_005250490.1:p.Asp185Glu
XR_242246.3:n.2400C>A
XM_017012319.2:c.555C>A	XP_016867808.1:p.Asp185Glu
XR_001744808.2:n.1331C>A
XR_242246.5:n.2351C>A
NM_000466.3:c.2304C>A MANE Select	NP_000457.1:p.Asp768Glu
NM_001282677.2:c.2133C>A	NP_001269606.1:p.Asp711Glu
NM_001282678.2:c.1680C>A	NP_001269607.1:p.Asp560Glu