Canonical Allele Identifier: CA368199599

Gene: PEX1

Linked Data

• MyVariant Identifiers: chr7:g.92147004A>T (hg19) ; chr7:g.92517690A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92517690A>T , CM000669.2:g.92517690A>T	GRCh38
NC_000007.13:g.92147004A>T , CM000669.1:g.92147004A>T	GRCh37
NC_000007.12:g.91984940A>T	NCBI36
NG_008341.1:g.15842T>A
NG_008341.2:g.15842T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.825T>A MANE Select	ENSP00000248633.4:p.Asn275Lys
ENST00000248633.8:c.825T>A	ENSP00000248633.4:p.Asn275Lys
ENST00000428214.5:c.825T>A	ENSP00000394413.1:p.Asn275Lys
ENST00000438045.5:c.274-3723T>A	ENSP00000410438.1:n.274-3723T>A
ENST00000484913.5:n.864T>A
NM_000466.2:c.825T>A	NP_000457.1:p.Asn275Lys
NM_001282677.1:c.825T>A	NP_001269606.1:p.Asn275Lys
NM_001282678.1:c.201T>A	NP_001269607.1:p.Asn67Lys
XR_242246.3:n.921T>A
XR_242246.5:n.872T>A
NM_000466.3:c.825T>A MANE Select	NP_000457.1:p.Asn275Lys
NM_001282677.2:c.825T>A	NP_001269606.1:p.Asn275Lys
NM_001282678.2:c.201T>A	NP_001269607.1:p.Asn67Lys