Canonical Allele Identifier: CA4341244

Gene: PEX1

Linked Data

• ClinVar Variation Id: 2083986
• ClinVar RCV Id: RCV002994476
• dbSNP Id: rs780226375
• ExAC: 7:92134130 C / T
• gnomAD v2: 7-92134130-C-T
• gnomAD v3: 7-92504816-C-T
• gnomAD v4: 7-92504816-C-T
• MyVariant Identifiers: chr7:g.92134130C>T (hg19) ; chr7:g.92504816C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92504816C>T , CM000669.2:g.92504816C>T	GRCh38
NC_000007.13:g.92134130C>T , CM000669.1:g.92134130C>T	GRCh37
NC_000007.12:g.91972066C>T	NCBI36
NG_008341.1:g.28716G>A
NG_008341.2:g.28716G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.1987G>A MANE Select	ENSP00000248633.4:p.Asp663Asn
ENST00000248633.8:c.1987G>A	ENSP00000248633.4:p.Asp663Asn
ENST00000428214.5:c.1900+1432G>A	ENSP00000394413.1:n.1900+1432G>A
ENST00000438045.5:c.1021G>A	ENSP00000410438.1:p.Asp341Asn
ENST00000484913.5:n.2026G>A
ENST00000496420.5:n.1663G>A
NM_000466.2:c.1987G>A	NP_000457.1:p.Asp663Asn
NM_001282677.1:c.1900+1432G>A	NP_001269606.1:n.1900+1432G>A
NM_001282678.1:c.1363G>A	NP_001269607.1:p.Asp455Asn
XM_005250433.3:c.238G>A	XP_005250490.1:p.Asp80Asn
XR_242246.3:n.2083G>A
XM_017012319.2:c.238G>A	XP_016867808.1:p.Asp80Asn
XR_001744808.2:n.1014G>A
XR_242246.5:n.2034G>A
NM_000466.3:c.1987G>A MANE Select	NP_000457.1:p.Asp663Asn
NM_001282677.2:c.1900+1432G>A	NP_001269606.1:n.1900+1432G>A
NM_001282678.2:c.1363G>A	NP_001269607.1:p.Asp455Asn