Canonical Allele Identifier: CA368202340

Gene: PEX1

Linked Data

• dbSNP Id: rs572987489
• MyVariant Identifiers: chr7:g.92147514A>C (hg19) ; chr7:g.92518200A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92518200A>C , CM000669.2:g.92518200A>C	GRCh38
NC_000007.13:g.92147514A>C , CM000669.1:g.92147514A>C	GRCh37
NC_000007.12:g.91985450A>C	NCBI36
NG_008341.1:g.15332T>G
NG_008341.2:g.15332T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.413T>G MANE Select	ENSP00000248633.4:p.Phe138Cys
ENST00000248633.8:c.413T>G	ENSP00000248633.4:p.Phe138Cys
ENST00000428214.5:c.413T>G	ENSP00000394413.1:p.Phe138Cys
ENST00000438045.5:c.273+3902T>G	ENSP00000410438.1:n.273+3902T>G
ENST00000484913.5:n.452T>G
NM_000466.2:c.413T>G	NP_000457.1:p.Phe138Cys
NM_001282677.1:c.413T>G	NP_001269606.1:p.Phe138Cys
NM_001282678.1:c.-212T>G	NP_001269607.1:n.-212T>G
XR_242246.3:n.509T>G
XR_242246.5:n.460T>G
NM_000466.3:c.413T>G MANE Select	NP_000457.1:p.Phe138Cys
NM_001282677.2:c.413T>G	NP_001269606.1:p.Phe138Cys
NM_001282678.2:c.-212T>G	NP_001269607.1:n.-212T>G