Canonical Allele Identifier: CA161974507

Gene: PEX1

Linked Data

• dbSNP Id: rs1012895036
• gnomAD v2: 7-92148146-A-T
• gnomAD v3: 7-92518832-A-T
• gnomAD v4: 7-92518832-A-T
• MyVariant Identifiers: chr7:g.92148146A>T (hg19) ; chr7:g.92518832A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92518832A>T , CM000669.2:g.92518832A>T	GRCh38
NC_000007.13:g.92148146A>T , CM000669.1:g.92148146A>T	GRCh37
NC_000007.12:g.91986082A>T	NCBI36
NG_008341.1:g.14700T>A
NG_008341.2:g.14700T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.357+163T>A MANE Select	ENSP00000248633.4:n.357+163T>A
ENST00000248633.8:c.357+163T>A	ENSP00000248633.4:n.357+163T>A
ENST00000428214.5:c.357+163T>A	ENSP00000394413.1:n.357+163T>A
ENST00000438045.5:c.273+3270T>A	ENSP00000410438.1:n.273+3270T>A
ENST00000484913.5:n.396+128T>A
NM_000466.2:c.357+163T>A	NP_000457.1:n.357+163T>A
NM_001282677.1:c.357+163T>A	NP_001269606.1:n.357+163T>A
NM_001282678.1:c.-268+128T>A	NP_001269607.1:n.-268+128T>A
XR_242246.3:n.453+163T>A
XR_242246.5:n.404+163T>A
NM_000466.3:c.357+163T>A MANE Select	NP_000457.1:n.357+163T>A
NM_001282677.2:c.357+163T>A	NP_001269606.1:n.357+163T>A
NM_001282678.2:c.-268+128T>A	NP_001269607.1:n.-268+128T>A