Canonical Allele Identifier: CA368183490

Gene: PEX1

Linked Data

• MyVariant Identifiers: chr7:g.92134124C>T (hg19) ; chr7:g.92504810C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92504810C>T , CM000669.2:g.92504810C>T	GRCh38
NC_000007.13:g.92134124C>T , CM000669.1:g.92134124C>T	GRCh37
NC_000007.12:g.91972060C>T	NCBI36
NG_008341.1:g.28722G>A
NG_008341.2:g.28722G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.1993G>A MANE Select	ENSP00000248633.4:p.Asp665Asn
ENST00000248633.8:c.1993G>A	ENSP00000248633.4:p.Asp665Asn
ENST00000428214.5:c.1900+1438G>A	ENSP00000394413.1:n.1900+1438G>A
ENST00000438045.5:c.1027G>A	ENSP00000410438.1:p.Asp343Asn
ENST00000484913.5:n.2032G>A
ENST00000496420.5:n.1669G>A
NM_000466.2:c.1993G>A	NP_000457.1:p.Asp665Asn
NM_001282677.1:c.1900+1438G>A	NP_001269606.1:n.1900+1438G>A
NM_001282678.1:c.1369G>A	NP_001269607.1:p.Asp457Asn
XM_005250433.3:c.244G>A	XP_005250490.1:p.Asp82Asn
XR_242246.3:n.2089G>A
XM_017012319.2:c.244G>A	XP_016867808.1:p.Asp82Asn
XR_001744808.2:n.1020G>A
XR_242246.5:n.2040G>A
NM_000466.3:c.1993G>A MANE Select	NP_000457.1:p.Asp665Asn
NM_001282677.2:c.1900+1438G>A	NP_001269606.1:n.1900+1438G>A
NM_001282678.2:c.1369G>A	NP_001269607.1:p.Asp457Asn