Canonical Allele Identifier: CA4341523

Gene: PEX1

Linked Data

• dbSNP Id: rs751506204
• ExAC: 7:92146931 C / T
• gnomAD v2: 7-92146931-C-T
• gnomAD v3: 7-92517617-C-T
• gnomAD v4: 7-92517617-C-T
• COSMIC: COSM5062671
• MyVariant Identifiers: chr7:g.92146931C>T (hg19) ; chr7:g.92517617C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92517617C>T , CM000669.2:g.92517617C>T	GRCh38
NC_000007.13:g.92146931C>T , CM000669.1:g.92146931C>T	GRCh37
NC_000007.12:g.91984867C>T	NCBI36
NG_008341.1:g.15915G>A
NG_008341.2:g.15915G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.898G>A MANE Select	ENSP00000248633.4:p.Ala300Thr
ENST00000248633.8:c.898G>A	ENSP00000248633.4:p.Ala300Thr
ENST00000428214.5:c.898G>A	ENSP00000394413.1:p.Ala300Thr
ENST00000438045.5:c.274-3650G>A	ENSP00000410438.1:n.274-3650G>A
ENST00000484913.5:n.937G>A
NM_000466.2:c.898G>A	NP_000457.1:p.Ala300Thr
NM_001282677.1:c.898G>A	NP_001269606.1:p.Ala300Thr
NM_001282678.1:c.274G>A	NP_001269607.1:p.Ala92Thr
XR_242246.3:n.994G>A
XM_017012319.2:c.-769G>A	XP_016867808.1:n.-769G>A
XR_001744808.2:n.8G>A
XR_242246.5:n.945G>A
NM_000466.3:c.898G>A MANE Select	NP_000457.1:p.Ala300Thr
NM_001282677.2:c.898G>A	NP_001269606.1:p.Ala300Thr
NM_001282678.2:c.274G>A	NP_001269607.1:p.Ala92Thr