Canonical Allele Identifier: CA843847358

Gene: PEX1

Linked Data

• dbSNP Id: rs1255713844
• gnomAD v3: 7-92518399-T-C
• gnomAD v4: 7-92518399-T-C
• MyVariant Identifiers: chr7:g.92147713T>C (hg19) ; chr7:g.92518399T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92518399T>C , CM000669.2:g.92518399T>C	GRCh38
NC_000007.13:g.92147713T>C , CM000669.1:g.92147713T>C	GRCh37
NC_000007.12:g.91985649T>C	NCBI36
NG_008341.1:g.15133A>G
NG_008341.2:g.15133A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.358-144A>G MANE Select	ENSP00000248633.4:n.358-144A>G
ENST00000248633.8:c.358-144A>G	ENSP00000248633.4:n.358-144A>G
ENST00000428214.5:c.358-144A>G	ENSP00000394413.1:n.358-144A>G
ENST00000438045.5:c.273+3703A>G	ENSP00000410438.1:n.273+3703A>G
ENST00000484913.5:n.397-144A>G
NM_000466.2:c.358-144A>G	NP_000457.1:n.358-144A>G
NM_001282677.1:c.358-144A>G	NP_001269606.1:n.358-144A>G
NM_001282678.1:c.-267-144A>G	NP_001269607.1:n.-267-144A>G
XR_242246.3:n.454-144A>G
XR_242246.5:n.405-144A>G
NM_000466.3:c.358-144A>G MANE Select	NP_000457.1:n.358-144A>G
NM_001282677.2:c.358-144A>G	NP_001269606.1:n.358-144A>G
NM_001282678.2:c.-267-144A>G	NP_001269607.1:n.-267-144A>G