Canonical Allele Identifier: CA161974293

Gene: PEX1

Linked Data

• dbSNP Id: rs189664372
• gnomAD v3: 7-92518449-T-G
• MyVariant Identifiers: chr7:g.92147763T>G (hg19) ; chr7:g.92518449T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92518449T>G , CM000669.2:g.92518449T>G	GRCh38
NC_000007.13:g.92147763T>G , CM000669.1:g.92147763T>G	GRCh37
NC_000007.12:g.91985699T>G	NCBI36
NG_008341.1:g.15083A>C
NG_008341.2:g.15083A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.358-194A>C MANE Select	ENSP00000248633.4:n.358-194A>C
ENST00000248633.8:c.358-194A>C	ENSP00000248633.4:n.358-194A>C
ENST00000428214.5:c.358-194A>C	ENSP00000394413.1:n.358-194A>C
ENST00000438045.5:c.273+3653A>C	ENSP00000410438.1:n.273+3653A>C
ENST00000484913.5:n.397-194A>C
NM_000466.2:c.358-194A>C	NP_000457.1:n.358-194A>C
NM_001282677.1:c.358-194A>C	NP_001269606.1:n.358-194A>C
NM_001282678.1:c.-267-194A>C	NP_001269607.1:n.-267-194A>C
XR_242246.3:n.454-194A>C
XR_242246.5:n.405-194A>C
NM_000466.3:c.358-194A>C MANE Select	NP_000457.1:n.358-194A>C
NM_001282677.2:c.358-194A>C	NP_001269606.1:n.358-194A>C
NM_001282678.2:c.-267-194A>C	NP_001269607.1:n.-267-194A>C