Canonical Allele Identifier: CA456624046

Gene: PEX1

Linked Data

• ClinVar Variation Id: 762581
• ClinVar RCV Id: RCV001277314 ; RCV003895719
• dbSNP Id: rs1210178752
• gnomAD v2: 7-92146998-C-T
• gnomAD v3: 7-92517684-C-T
• gnomAD v4: 7-92517684-C-T
• MyVariant Identifiers: chr7:g.92146998C>T (hg19) ; chr7:g.92517684C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92517684C>T , CM000669.2:g.92517684C>T	GRCh38
NC_000007.13:g.92146998C>T , CM000669.1:g.92146998C>T	GRCh37
NC_000007.12:g.91984934C>T	NCBI36
NG_008341.1:g.15848G>A
NG_008341.2:g.15848G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.831G>A MANE Select	ENSP00000248633.4:p.Gln277=
ENST00000248633.8:c.831G>A	ENSP00000248633.4:p.Gln277=
ENST00000428214.5:c.831G>A	ENSP00000394413.1:p.Gln277=
ENST00000438045.5:c.274-3717G>A	ENSP00000410438.1:n.274-3717G>A
ENST00000484913.5:n.870G>A
NM_000466.2:c.831G>A	NP_000457.1:p.Gln277=
NM_001282677.1:c.831G>A	NP_001269606.1:p.Gln277=
NM_001282678.1:c.207G>A	NP_001269607.1:p.Gln69=
XR_242246.3:n.927G>A
XR_242246.5:n.878G>A
NM_000466.3:c.831G>A MANE Select	NP_000457.1:p.Gln277=
NM_001282677.2:c.831G>A	NP_001269606.1:p.Gln277=
NM_001282678.2:c.207G>A	NP_001269607.1:p.Gln69=