Canonical Allele Identifier: CA368204876

Gene: PEX1

Linked Data

• gnomAD v4: 7-92522155-C-T
• MyVariant Identifiers: chr7:g.92151469C>T (hg19) ; chr7:g.92522155C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92522155C>T , CM000669.2:g.92522155C>T	GRCh38
NC_000007.13:g.92151469C>T , CM000669.1:g.92151469C>T	GRCh37
NC_000007.12:g.91989405C>T	NCBI36
NG_008341.1:g.11377G>A
NG_008341.2:g.11377G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.220G>A MANE Select	ENSP00000248633.4:p.Ala74Thr
ENST00000248633.8:c.220G>A	ENSP00000248633.4:p.Ala74Thr
ENST00000428214.5:c.220G>A	ENSP00000394413.1:p.Ala74Thr
ENST00000438045.5:c.220G>A	ENSP00000410438.1:p.Ala74Thr
ENST00000484913.5:n.224G>A
NM_000466.2:c.220G>A	NP_000457.1:p.Ala74Thr
NM_001282677.1:c.220G>A	NP_001269606.1:p.Ala74Thr
NM_001282678.1:c.-440G>A	NP_001269607.1:n.-440G>A
XR_242246.3:n.316G>A
XR_242246.5:n.267G>A
NM_000466.3:c.220G>A MANE Select	NP_000457.1:p.Ala74Thr
NM_001282677.2:c.220G>A	NP_001269606.1:p.Ala74Thr
NM_001282678.2:c.-440G>A	NP_001269607.1:n.-440G>A