Canonical Allele Identifier: CA1104491906

Gene: PEX1

Linked Data

• dbSNP Id: rs1792003081
• gnomAD v3: 7-92502988-A-G
• gnomAD v4: 7-92502988-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92502988A>G , CM000669.2:g.92502988A>G	GRCh38
NC_000007.13:g.92132302A>G , CM000669.1:g.92132302A>G	GRCh37
NC_000007.12:g.91970238A>G	NCBI36
NG_008341.1:g.30544T>C
NG_008341.2:g.30544T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2226+53T>C MANE Select	ENSP00000248633.4:n.2226+53T>C
ENST00000248633.8:c.2226+53T>C	ENSP00000248633.4:n.2226+53T>C
ENST00000428214.5:c.2055+53T>C	ENSP00000394413.1:n.2055+53T>C
ENST00000438045.5:c.1260+53T>C	ENSP00000410438.1:n.1260+53T>C
ENST00000484913.5:n.2265+53T>C
ENST00000496092.1:n.24+53T>C
ENST00000496420.5:n.1902+53T>C
NM_000466.2:c.2226+53T>C	NP_000457.1:n.2226+53T>C
NM_001282677.1:c.2055+53T>C	NP_001269606.1:n.2055+53T>C
NM_001282678.1:c.1602+53T>C	NP_001269607.1:n.1602+53T>C
XM_005250433.3:c.477+53T>C	XP_005250490.1:n.477+53T>C
XR_242246.3:n.2322+53T>C
XM_017012319.2:c.477+53T>C	XP_016867808.1:n.477+53T>C
XR_001744808.2:n.1253+53T>C
XR_242246.5:n.2273+53T>C
NM_000466.3:c.2226+53T>C MANE Select	NP_000457.1:n.2226+53T>C
NM_001282677.2:c.2055+53T>C	NP_001269606.1:n.2055+53T>C
NM_001282678.2:c.1602+53T>C	NP_001269607.1:n.1602+53T>C