Canonical Allele Identifier: CA456624321
Gene: PEX1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr7:g.92147103T>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92517789T>A , CM000669.2:g.92517789T>A GRCh38
NC_000007.13:g.92147103T>A , CM000669.1:g.92147103T>A GRCh37
NC_000007.12:g.91985039T>A NCBI36
NG_008341.1:g.15743A>T
NG_008341.2:g.15743A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000248633.9:c.726A>T MANE Select ENSP00000248633.4:p.Val242=
ENST00000248633.8:c.726A>T ENSP00000248633.4:p.Val242=
ENST00000428214.5:c.726A>T ENSP00000394413.1:p.Val242=
ENST00000438045.5:c.274-3822A>T ENSP00000410438.1:n.274-3822A>T
ENST00000484913.5:n.765A>T
NM_000466.2:c.726A>T NP_000457.1:p.Val242=
NM_001282677.1:c.726A>T NP_001269606.1:p.Val242=
NM_001282678.1:c.102A>T NP_001269607.1:p.Val34=
XR_242246.3:n.822A>T
XR_242246.5:n.773A>T
NM_000466.3:c.726A>T MANE Select NP_000457.1:p.Val242=
NM_001282677.2:c.726A>T NP_001269606.1:p.Val242=
NM_001282678.2:c.102A>T NP_001269607.1:p.Val34=