Canonical Allele Identifier: CA576309374

Gene: PEX1

Linked Data

• dbSNP Id: rs1300964905
• gnomAD v2: 7-92151606-T-C
• gnomAD v3: 7-92522292-T-C
• gnomAD v4: 7-92522292-T-C
• MyVariant Identifiers: chr7:g.92151606T>C (hg19) ; chr7:g.92522292T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92522292T>C , CM000669.2:g.92522292T>C	GRCh38
NC_000007.13:g.92151606T>C , CM000669.1:g.92151606T>C	GRCh37
NC_000007.12:g.91989542T>C	NCBI36
NG_008341.1:g.11240A>G
NG_008341.2:g.11240A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.130-47A>G MANE Select	ENSP00000248633.4:n.130-47A>G
ENST00000248633.8:c.130-47A>G	ENSP00000248633.4:n.130-47A>G
ENST00000428214.5:c.130-47A>G	ENSP00000394413.1:n.130-47A>G
ENST00000438045.5:c.130-47A>G	ENSP00000410438.1:n.130-47A>G
ENST00000484913.5:n.134-47A>G
NM_000466.2:c.130-47A>G	NP_000457.1:n.130-47A>G
NM_001282677.1:c.130-47A>G	NP_001269606.1:n.130-47A>G
NM_001282678.1:c.-530-47A>G	NP_001269607.1:n.-530-47A>G
XR_242246.3:n.226-47A>G
XR_242246.5:n.177-47A>G
NM_000466.3:c.130-47A>G MANE Select	NP_000457.1:n.130-47A>G
NM_001282677.2:c.130-47A>G	NP_001269606.1:n.130-47A>G
NM_001282678.2:c.-530-47A>G	NP_001269607.1:n.-530-47A>G