Canonical Allele Identifier: CA2683719179

Gene: PEX1

Linked Data

• ClinVar Variation Id: 2791358
• ClinVar RCV Id: RCV003760071
• gnomAD v4: 7-92506360-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92506360T>C , CM000669.2:g.92506360T>C	GRCh38
NC_000007.13:g.92135674T>C , CM000669.1:g.92135674T>C	GRCh37
NC_000007.12:g.91973610T>C	NCBI36
NG_008341.1:g.27172A>G
NG_008341.2:g.27172A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.1804-16A>G MANE Select	ENSP00000248633.4:n.1804-16A>G
ENST00000248633.8:c.1804-16A>G	ENSP00000248633.4:n.1804-16A>G
ENST00000422866.1:c.622-16A>G
ENST00000428214.5:c.1804-16A>G	ENSP00000394413.1:n.1804-16A>G
ENST00000438045.5:c.838-16A>G	ENSP00000410438.1:n.838-16A>G
ENST00000484913.5:n.1843-16A>G
ENST00000496420.5:n.1464A>G
NM_000466.2:c.1804-16A>G	NP_000457.1:n.1804-16A>G
NM_001282677.1:c.1804-16A>G	NP_001269606.1:n.1804-16A>G
NM_001282678.1:c.1180-16A>G	NP_001269607.1:n.1180-16A>G
XM_005250433.3:c.55-16A>G	XP_005250490.1:n.55-16A>G
XR_242246.3:n.1900-16A>G
XM_017012319.2:c.55-16A>G	XP_016867808.1:n.55-16A>G
XR_001744808.2:n.831-16A>G
XR_242246.5:n.1851-16A>G
NM_000466.3:c.1804-16A>G MANE Select	NP_000457.1:n.1804-16A>G
NM_001282677.2:c.1804-16A>G	NP_001269606.1:n.1804-16A>G
NM_001282678.2:c.1180-16A>G	NP_001269607.1:n.1180-16A>G