Canonical Allele Identifier: CA843847491

Gene: PEX1

Linked Data

• dbSNP Id: rs1394394417
• gnomAD v4: 7-92518834-T-A
• MyVariant Identifiers: chr7:g.92148148T>A (hg19) ; chr7:g.92518834T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92518834T>A , CM000669.2:g.92518834T>A	GRCh38
NC_000007.13:g.92148148T>A , CM000669.1:g.92148148T>A	GRCh37
NC_000007.12:g.91986084T>A	NCBI36
NG_008341.1:g.14698A>T
NG_008341.2:g.14698A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.357+161A>T MANE Select	ENSP00000248633.4:n.357+161A>T
ENST00000248633.8:c.357+161A>T	ENSP00000248633.4:n.357+161A>T
ENST00000428214.5:c.357+161A>T	ENSP00000394413.1:n.357+161A>T
ENST00000438045.5:c.273+3268A>T	ENSP00000410438.1:n.273+3268A>T
ENST00000484913.5:n.396+126A>T
NM_000466.2:c.357+161A>T	NP_000457.1:n.357+161A>T
NM_001282677.1:c.357+161A>T	NP_001269606.1:n.357+161A>T
NM_001282678.1:c.-268+126A>T	NP_001269607.1:n.-268+126A>T
XR_242246.3:n.453+161A>T
XR_242246.5:n.404+161A>T
NM_000466.3:c.357+161A>T MANE Select	NP_000457.1:n.357+161A>T
NM_001282677.2:c.357+161A>T	NP_001269606.1:n.357+161A>T
NM_001282678.2:c.-268+126A>T	NP_001269607.1:n.-268+126A>T