Canonical Allele Identifier: CA456623760

Gene: PEX1

Linked Data

• dbSNP Id: rs774647178
• gnomAD v4: 7-92517366-C-T
• MyVariant Identifiers: chr7:g.92146680C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92517366C>T , CM000669.2:g.92517366C>T	GRCh38
NC_000007.13:g.92146680C>T , CM000669.1:g.92146680C>T	GRCh37
NC_000007.12:g.91984616C>T	NCBI36
NG_008341.1:g.16166G>A
NG_008341.2:g.16166G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.1149G>A MANE Select	ENSP00000248633.4:p.Val383=
ENST00000248633.8:c.1149G>A	ENSP00000248633.4:p.Val383=
ENST00000422866.1:c.50G>A
ENST00000428214.5:c.1149G>A	ENSP00000394413.1:p.Val383=
ENST00000438045.5:c.274-3399G>A	ENSP00000410438.1:n.274-3399G>A
ENST00000484913.5:n.1188G>A
NM_000466.2:c.1149G>A	NP_000457.1:p.Val383=
NM_001282677.1:c.1149G>A	NP_001269606.1:p.Val383=
NM_001282678.1:c.525G>A	NP_001269607.1:p.Val175=
XR_242246.3:n.1245G>A
XM_017012319.2:c.-518G>A	XP_016867808.1:n.-518G>A
XR_001744808.2:n.259G>A
XR_242246.5:n.1196G>A
NM_000466.3:c.1149G>A MANE Select	NP_000457.1:p.Val383=
NM_001282677.2:c.1149G>A	NP_001269606.1:p.Val383=
NM_001282678.2:c.525G>A	NP_001269607.1:p.Val175=