Canonical Allele Identifier: CA4341627

Gene: PEX1

Linked Data

• dbSNP Id: rs758852815
• ExAC: 7:92148273 C / G
• gnomAD v2: 7-92148273-C-G
• gnomAD v4: 7-92518959-C-G
• MyVariant Identifiers: chr7:g.92148273C>G (hg19) ; chr7:g.92518959C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92518959C>G , CM000669.2:g.92518959C>G	GRCh38
NC_000007.13:g.92148273C>G , CM000669.1:g.92148273C>G	GRCh37
NC_000007.12:g.91986209C>G	NCBI36
NG_008341.1:g.14573G>C
NG_008341.2:g.14573G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.357+36G>C MANE Select	ENSP00000248633.4:n.357+36G>C
ENST00000248633.8:c.357+36G>C	ENSP00000248633.4:n.357+36G>C
ENST00000428214.5:c.357+36G>C	ENSP00000394413.1:n.357+36G>C
ENST00000438045.5:c.273+3143G>C	ENSP00000410438.1:n.273+3143G>C
ENST00000484913.5:n.396+1G>C
NM_000466.2:c.357+36G>C	NP_000457.1:n.357+36G>C
NM_001282677.1:c.357+36G>C	NP_001269606.1:n.357+36G>C
NM_001282678.1:c.-268+1G>C	NP_001269607.1:n.-268+1G>C
XR_242246.3:n.453+36G>C
XR_242246.5:n.404+36G>C
NM_000466.3:c.357+36G>C MANE Select	NP_000457.1:n.357+36G>C
NM_001282677.2:c.357+36G>C	NP_001269606.1:n.357+36G>C
NM_001282678.2:c.-268+1G>C	NP_001269607.1:n.-268+1G>C