Canonical Allele Identifier: CA2580077824

Gene: PEX1

Linked Data

• ClinVar Variation Id: 1958052
• ClinVar RCV Id: RCV002691096
• gnomAD v4: 7-92504909-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92504909A>G , CM000669.2:g.92504909A>G	GRCh38
NC_000007.13:g.92134223A>G , CM000669.1:g.92134223A>G	GRCh37
NC_000007.12:g.91972159A>G	NCBI36
NG_008341.1:g.28623T>C
NG_008341.2:g.28623T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.1901-7T>C MANE Select	ENSP00000248633.4:n.1901-7T>C
ENST00000248633.8:c.1901-7T>C	ENSP00000248633.4:n.1901-7T>C
ENST00000422866.1:c.719-7T>C
ENST00000428214.5:c.1900+1339T>C	ENSP00000394413.1:n.1900+1339T>C
ENST00000438045.5:c.935-7T>C	ENSP00000410438.1:n.935-7T>C
ENST00000484913.5:n.1940-7T>C
ENST00000496420.5:n.1577-7T>C
NM_000466.2:c.1901-7T>C	NP_000457.1:n.1901-7T>C
NM_001282677.1:c.1900+1339T>C	NP_001269606.1:n.1900+1339T>C
NM_001282678.1:c.1277-7T>C	NP_001269607.1:n.1277-7T>C
XM_005250433.3:c.152-7T>C	XP_005250490.1:n.152-7T>C
XR_242246.3:n.1997-7T>C
XM_017012319.2:c.152-7T>C	XP_016867808.1:n.152-7T>C
XR_001744808.2:n.928-7T>C
XR_242246.5:n.1948-7T>C
NM_000466.3:c.1901-7T>C MANE Select	NP_000457.1:n.1901-7T>C
NM_001282677.2:c.1900+1339T>C	NP_001269606.1:n.1900+1339T>C
NM_001282678.2:c.1277-7T>C	NP_001269607.1:n.1277-7T>C