Canonical Allele Identifier: CA368173611

Gene: PEX1

Linked Data

• dbSNP Id: rs1350051386
• gnomAD v3: 7-92499748-C-T
• gnomAD v4: 7-92499748-C-T
• MyVariant Identifiers: chr7:g.92129062C>T (hg19) ; chr7:g.92499748C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92499748C>T , CM000669.2:g.92499748C>T	GRCh38
NC_000007.13:g.92129062C>T , CM000669.1:g.92129062C>T	GRCh37
NC_000007.12:g.91966998C>T	NCBI36
NG_008341.1:g.33784G>A
NG_008341.2:g.33784G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2674G>A MANE Select	ENSP00000248633.4:p.Gly892Arg
ENST00000248633.8:c.2674G>A	ENSP00000248633.4:p.Gly892Arg
ENST00000428214.5:c.2503G>A	ENSP00000394413.1:p.Gly835Arg
ENST00000438045.5:c.1708G>A	ENSP00000410438.1:p.Gly570Arg
ENST00000484913.5:n.2713G>A
ENST00000496420.5:n.2566G>A
NM_000466.2:c.2674G>A	NP_000457.1:p.Gly892Arg
NM_001282677.1:c.2503G>A	NP_001269606.1:p.Gly835Arg
NM_001282678.1:c.2050G>A	NP_001269607.1:p.Gly684Arg
XM_005250433.3:c.925G>A	XP_005250490.1:p.Gly309Arg
XR_242246.3:n.2770G>A
XM_017012319.2:c.925G>A	XP_016867808.1:p.Gly309Arg
XR_001744808.2:n.1701G>A
XR_242246.5:n.2721G>A
NM_000466.3:c.2674G>A MANE Select	NP_000457.1:p.Gly892Arg
NM_001282677.2:c.2503G>A	NP_001269606.1:p.Gly835Arg
NM_001282678.2:c.2050G>A	NP_001269607.1:p.Gly684Arg