Canonical Allele Identifier: CA368199955

Gene: PEX1

Linked Data

• dbSNP Id: rs1219341090
• gnomAD v2: 7-92147057-C-A
• gnomAD v4: 7-92517743-C-A
• MyVariant Identifiers: chr7:g.92147057C>A (hg19) ; chr7:g.92517743C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92517743C>A , CM000669.2:g.92517743C>A	GRCh38
NC_000007.13:g.92147057C>A , CM000669.1:g.92147057C>A	GRCh37
NC_000007.12:g.91984993C>A	NCBI36
NG_008341.1:g.15789G>T
NG_008341.2:g.15789G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.772G>T MANE Select	ENSP00000248633.4:p.Glu258Ter
ENST00000248633.8:c.772G>T	ENSP00000248633.4:p.Glu258Ter
ENST00000428214.5:c.772G>T	ENSP00000394413.1:p.Glu258Ter
ENST00000438045.5:c.274-3776G>T	ENSP00000410438.1:n.274-3776G>T
ENST00000484913.5:n.811G>T
NM_000466.2:c.772G>T	NP_000457.1:p.Glu258Ter
NM_001282677.1:c.772G>T	NP_001269606.1:p.Glu258Ter
NM_001282678.1:c.148G>T	NP_001269607.1:p.Glu50Ter
XR_242246.3:n.868G>T
XR_242246.5:n.819G>T
NM_000466.3:c.772G>T MANE Select	NP_000457.1:p.Glu258Ter
NM_001282677.2:c.772G>T	NP_001269606.1:p.Glu258Ter
NM_001282678.2:c.148G>T	NP_001269607.1:p.Glu50Ter