Canonical Allele Identifier: CA161968460

Gene: PEX1

Linked Data

• dbSNP Id: rs763862595
• gnomAD v3: 7-92510946-G-A
• gnomAD v4: 7-92510946-G-A
• MyVariant Identifiers: chr7:g.92140260G>A (hg19) ; chr7:g.92510946G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92510946G>A , CM000669.2:g.92510946G>A	GRCh38
NC_000007.13:g.92140260G>A , CM000669.1:g.92140260G>A	GRCh37
NC_000007.12:g.91978196G>A	NCBI36
NG_008341.1:g.22586C>T
NG_008341.2:g.22586C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.1585C>T MANE Select	ENSP00000248633.4:p.Gln529Ter
ENST00000248633.8:c.1585C>T	ENSP00000248633.4:p.Gln529Ter
ENST00000422866.1:c.486C>T
ENST00000428214.5:c.1585C>T	ENSP00000394413.1:p.Gln529Ter
ENST00000438045.5:c.619C>T	ENSP00000410438.1:p.Gln207Ter
ENST00000476923.1:n.346C>T
ENST00000484913.5:n.1624C>T
NM_000466.2:c.1585C>T	NP_000457.1:p.Gln529Ter
NM_001282677.1:c.1585C>T	NP_001269606.1:p.Gln529Ter
NM_001282678.1:c.961C>T	NP_001269607.1:p.Gln321Ter
XM_005250433.3:c.-82C>T	XP_005250490.1:n.-82C>T
XR_242246.3:n.1681C>T
XM_017012319.2:c.-82C>T	XP_016867808.1:n.-82C>T
XR_001744808.2:n.695C>T
XR_242246.5:n.1632C>T
NM_000466.3:c.1585C>T MANE Select	NP_000457.1:p.Gln529Ter
NM_001282677.2:c.1585C>T	NP_001269606.1:p.Gln529Ter
NM_001282678.2:c.961C>T	NP_001269607.1:p.Gln321Ter