Canonical Allele Identifier: CA4341634

Gene: PEX1

Linked Data

• dbSNP Id: rs747774810
• ExAC: 7:92148304 T / G
• gnomAD v2: 7-92148304-T-G
• gnomAD v4: 7-92518990-T-G
• MyVariant Identifiers: chr7:g.92148304T>G (hg19) ; chr7:g.92518990T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92518990T>G , CM000669.2:g.92518990T>G	GRCh38
NC_000007.13:g.92148304T>G , CM000669.1:g.92148304T>G	GRCh37
NC_000007.12:g.91986240T>G	NCBI36
NG_008341.1:g.14542A>C
NG_008341.2:g.14542A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.357+5A>C MANE Select	ENSP00000248633.4:n.357+5A>C
ENST00000248633.8:c.357+5A>C	ENSP00000248633.4:n.357+5A>C
ENST00000428214.5:c.357+5A>C	ENSP00000394413.1:n.357+5A>C
ENST00000438045.5:c.273+3112A>C	ENSP00000410438.1:n.273+3112A>C
ENST00000484913.5:n.366A>C
NM_000466.2:c.357+5A>C	NP_000457.1:n.357+5A>C
NM_001282677.1:c.357+5A>C	NP_001269606.1:n.357+5A>C
NM_001282678.1:c.-298A>C	NP_001269607.1:n.-298A>C
XR_242246.3:n.453+5A>C
XR_242246.5:n.404+5A>C
NM_000466.3:c.357+5A>C MANE Select	NP_000457.1:n.357+5A>C
NM_001282677.2:c.357+5A>C	NP_001269606.1:n.357+5A>C
NM_001282678.2:c.-298A>C	NP_001269607.1:n.-298A>C