Canonical Allele Identifier: CA201545

Gene: PEX1

Linked Data

• ClinVar Variation Id: 195076
• ClinVar RCV Id: RCV000175612 ; RCV000267284 ; RCV001277317
• dbSNP Id: rs377337949
• ExAC: 7:92151568 A / G
• gnomAD v2: 7-92151568-A-G
• gnomAD v3: 7-92522254-A-G
• gnomAD v4: 7-92522254-A-G
• MyVariant Identifiers: chr7:g.92151568A>G (hg19) ; chr7:g.92522254A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92522254A>G , CM000669.2:g.92522254A>G	GRCh38
NC_000007.13:g.92151568A>G , CM000669.1:g.92151568A>G	GRCh37
NC_000007.12:g.91989504A>G	NCBI36
NG_008341.1:g.11278T>C
NG_008341.2:g.11278T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.130-9T>C MANE Select	ENSP00000248633.4:n.130-9T>C
ENST00000248633.8:c.130-9T>C	ENSP00000248633.4:n.130-9T>C
ENST00000428214.5:c.130-9T>C	ENSP00000394413.1:n.130-9T>C
ENST00000438045.5:c.130-9T>C	ENSP00000410438.1:n.130-9T>C
ENST00000484913.5:n.134-9T>C
NM_000466.2:c.130-9T>C	NP_000457.1:n.130-9T>C
NM_001282677.1:c.130-9T>C	NP_001269606.1:n.130-9T>C
NM_001282678.1:c.-530-9T>C	NP_001269607.1:n.-530-9T>C
XR_242246.3:n.226-9T>C
XR_242246.5:n.177-9T>C
NM_000466.3:c.130-9T>C MANE Select	NP_000457.1:n.130-9T>C
NM_001282677.2:c.130-9T>C	NP_001269606.1:n.130-9T>C
NM_001282678.2:c.-530-9T>C	NP_001269607.1:n.-530-9T>C