Canonical Allele Identifier: CA4341197

Gene: PEX1

Linked Data

• dbSNP Id: rs555656543
• ExAC: 7:92132371 A / T
• gnomAD v2: 7-92132371-A-T
• gnomAD v3: 7-92503057-A-T
• gnomAD v4: 7-92503057-A-T
• MyVariant Identifiers: chr7:g.92132371A>T (hg19) ; chr7:g.92503057A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92503057A>T , CM000669.2:g.92503057A>T	GRCh38
NC_000007.13:g.92132371A>T , CM000669.1:g.92132371A>T	GRCh37
NC_000007.12:g.91970307A>T	NCBI36
NG_008341.1:g.30475T>A
NG_008341.2:g.30475T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2210T>A MANE Select	ENSP00000248633.4:p.Ile737Asn
ENST00000248633.8:c.2210T>A	ENSP00000248633.4:p.Ile737Asn
ENST00000428214.5:c.2039T>A	ENSP00000394413.1:p.Ile680Asn
ENST00000438045.5:c.1244T>A	ENSP00000410438.1:p.Ile415Asn
ENST00000484913.5:n.2249T>A
ENST00000496092.1:n.8T>A
ENST00000496420.5:n.1886T>A
NM_000466.2:c.2210T>A	NP_000457.1:p.Ile737Asn
NM_001282677.1:c.2039T>A	NP_001269606.1:p.Ile680Asn
NM_001282678.1:c.1586T>A	NP_001269607.1:p.Ile529Asn
XM_005250433.3:c.461T>A	XP_005250490.1:p.Ile154Asn
XR_242246.3:n.2306T>A
XM_017012319.2:c.461T>A	XP_016867808.1:p.Ile154Asn
XR_001744808.2:n.1237T>A
XR_242246.5:n.2257T>A
NM_000466.3:c.2210T>A MANE Select	NP_000457.1:p.Ile737Asn
NM_001282677.2:c.2039T>A	NP_001269606.1:p.Ile680Asn
NM_001282678.2:c.1586T>A	NP_001269607.1:p.Ile529Asn