Canonical Allele Identifier: CA2573142460

Gene: PEX1

Linked Data

• ClinVar Variation Id: 1538972
• ClinVar RCV Id: RCV002162260
• dbSNP Id: rs772716358
• gnomAD v4: 7-92503033-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92503033T>C , CM000669.2:g.92503033T>C	GRCh38
NC_000007.13:g.92132347T>C , CM000669.1:g.92132347T>C	GRCh37
NC_000007.12:g.91970283T>C	NCBI36
NG_008341.1:g.30499A>G
NG_008341.2:g.30499A>G

Transcript Alleles

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