Canonical Allele Identifier: CA368173924

Gene: PEX1

Linked Data

• ClinVar Variation Id: 2172794
• ClinVar RCV Id: RCV002581588
• MyVariant Identifiers: chr7:g.92129098A>T (hg19) ; chr7:g.92499784A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92499784A>T , CM000669.2:g.92499784A>T	GRCh38
NC_000007.13:g.92129098A>T , CM000669.1:g.92129098A>T	GRCh37
NC_000007.12:g.91967034A>T	NCBI36
NG_008341.1:g.33748T>A
NG_008341.2:g.33748T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2638T>A MANE Select	ENSP00000248633.4:p.Tyr880Asn
ENST00000248633.8:c.2638T>A	ENSP00000248633.4:p.Tyr880Asn
ENST00000428214.5:c.2467T>A	ENSP00000394413.1:p.Tyr823Asn
ENST00000438045.5:c.1672T>A	ENSP00000410438.1:p.Tyr558Asn
ENST00000484913.5:n.2677T>A
ENST00000496420.5:n.2530T>A
NM_000466.2:c.2638T>A	NP_000457.1:p.Tyr880Asn
NM_001282677.1:c.2467T>A	NP_001269606.1:p.Tyr823Asn
NM_001282678.1:c.2014T>A	NP_001269607.1:p.Tyr672Asn
XM_005250433.3:c.889T>A	XP_005250490.1:p.Tyr297Asn
XR_242246.3:n.2734T>A
XM_017012319.2:c.889T>A	XP_016867808.1:p.Tyr297Asn
XR_001744808.2:n.1665T>A
XR_242246.5:n.2685T>A
NM_000466.3:c.2638T>A MANE Select	NP_000457.1:p.Tyr880Asn
NM_001282677.2:c.2467T>A	NP_001269606.1:p.Tyr823Asn
NM_001282678.2:c.2014T>A	NP_001269607.1:p.Tyr672Asn