Canonical Allele Identifier: CA368202853

Gene: PEX1

Linked Data

• dbSNP Id: rs1792933498
• gnomAD v3: 7-92518999-A-G
• gnomAD v4: 7-92518999-A-G
• MyVariant Identifiers: chr7:g.92148313A>G (hg19) ; chr7:g.92518999A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92518999A>G , CM000669.2:g.92518999A>G	GRCh38
NC_000007.13:g.92148313A>G , CM000669.1:g.92148313A>G	GRCh37
NC_000007.12:g.91986249A>G	NCBI36
NG_008341.1:g.14533T>C
NG_008341.2:g.14533T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.353T>C MANE Select	ENSP00000248633.4:p.Ile118Thr
ENST00000248633.8:c.353T>C	ENSP00000248633.4:p.Ile118Thr
ENST00000428214.5:c.353T>C	ENSP00000394413.1:p.Ile118Thr
ENST00000438045.5:c.273+3103T>C	ENSP00000410438.1:n.273+3103T>C
ENST00000484913.5:n.357T>C
NM_000466.2:c.353T>C	NP_000457.1:p.Ile118Thr
NM_001282677.1:c.353T>C	NP_001269606.1:p.Ile118Thr
NM_001282678.1:c.-307T>C	NP_001269607.1:n.-307T>C
XR_242246.3:n.449T>C
XR_242246.5:n.400T>C
NM_000466.3:c.353T>C MANE Select	NP_000457.1:p.Ile118Thr
NM_001282677.2:c.353T>C	NP_001269606.1:p.Ile118Thr
NM_001282678.2:c.-307T>C	NP_001269607.1:n.-307T>C