Canonical Allele Identifier: CA456623750

Gene: PEX1

Linked Data

• dbSNP Id: rs776933950
• gnomAD v3: 7-92517363-T-A
• gnomAD v4: 7-92517363-T-A
• MyVariant Identifiers: chr7:g.92146677T>A (hg19) ; chr7:g.92517363T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92517363T>A , CM000669.2:g.92517363T>A	GRCh38
NC_000007.13:g.92146677T>A , CM000669.1:g.92146677T>A	GRCh37
NC_000007.12:g.91984613T>A	NCBI36
NG_008341.1:g.16169A>T
NG_008341.2:g.16169A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.1152A>T MANE Select	ENSP00000248633.4:p.Leu384=
ENST00000248633.8:c.1152A>T	ENSP00000248633.4:p.Leu384=
ENST00000422866.1:c.53A>T
ENST00000428214.5:c.1152A>T	ENSP00000394413.1:p.Leu384=
ENST00000438045.5:c.274-3396A>T	ENSP00000410438.1:n.274-3396A>T
ENST00000484913.5:n.1191A>T
NM_000466.2:c.1152A>T	NP_000457.1:p.Leu384=
NM_001282677.1:c.1152A>T	NP_001269606.1:p.Leu384=
NM_001282678.1:c.528A>T	NP_001269607.1:p.Leu176=
XR_242246.3:n.1248A>T
XM_017012319.2:c.-515A>T	XP_016867808.1:n.-515A>T
XR_001744808.2:n.262A>T
XR_242246.5:n.1199A>T
NM_000466.3:c.1152A>T MANE Select	NP_000457.1:p.Leu384=
NM_001282677.2:c.1152A>T	NP_001269606.1:p.Leu384=
NM_001282678.2:c.528A>T	NP_001269607.1:p.Leu176=