Canonical Allele Identifier: CA456482954

Gene: PEX1

Linked Data

• dbSNP Id: rs1791952860
• gnomAD v3: 7-92502002-G-A
• gnomAD v4: 7-92502002-G-A
• MyVariant Identifiers: chr7:g.92131316G>A (hg19)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.2304C>T MANE Select	ENSP00000248633.4:p.Asp768=
ENST00000248633.8:c.2304C>T	ENSP00000248633.4:p.Asp768=
ENST00000428214.5:c.2133C>T	ENSP00000394413.1:p.Asp711=
ENST00000438045.5:c.1338C>T	ENSP00000410438.1:p.Asp446=
ENST00000484913.5:n.2343C>T
ENST00000496092.1:n.102C>T
ENST00000496420.5:n.1980C>T
NM_000466.2:c.2304C>T	NP_000457.1:p.Asp768=
NM_001282677.1:c.2133C>T	NP_001269606.1:p.Asp711=
NM_001282678.1:c.1680C>T	NP_001269607.1:p.Asp560=
XM_005250433.3:c.555C>T	XP_005250490.1:p.Asp185=
XR_242246.3:n.2400C>T
XM_017012319.2:c.555C>T	XP_016867808.1:p.Asp185=
XR_001744808.2:n.1331C>T
XR_242246.5:n.2351C>T
NM_000466.3:c.2304C>T MANE Select	NP_000457.1:p.Asp768=
NM_001282677.2:c.2133C>T	NP_001269606.1:p.Asp711=
NM_001282678.2:c.1680C>T	NP_001269607.1:p.Asp560=