Canonical Allele Identifier: CA368198919

Gene: PEX1

Linked Data

• MyVariant Identifiers: chr7:g.92146900C>T (hg19) ; chr7:g.92517586C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92517586C>T , CM000669.2:g.92517586C>T	GRCh38
NC_000007.13:g.92146900C>T , CM000669.1:g.92146900C>T	GRCh37
NC_000007.12:g.91984836C>T	NCBI36
NG_008341.1:g.15946G>A
NG_008341.2:g.15946G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.929G>A MANE Select	ENSP00000248633.4:p.Cys310Tyr
ENST00000248633.8:c.929G>A	ENSP00000248633.4:p.Cys310Tyr
ENST00000428214.5:c.929G>A	ENSP00000394413.1:p.Cys310Tyr
ENST00000438045.5:c.274-3619G>A	ENSP00000410438.1:n.274-3619G>A
ENST00000484913.5:n.968G>A
NM_000466.2:c.929G>A	NP_000457.1:p.Cys310Tyr
NM_001282677.1:c.929G>A	NP_001269606.1:p.Cys310Tyr
NM_001282678.1:c.305G>A	NP_001269607.1:p.Cys102Tyr
XR_242246.3:n.1025G>A
XM_017012319.2:c.-738G>A	XP_016867808.1:n.-738G>A
XR_001744808.2:n.39G>A
XR_242246.5:n.976G>A
NM_000466.3:c.929G>A MANE Select	NP_000457.1:p.Cys310Tyr
NM_001282677.2:c.929G>A	NP_001269606.1:p.Cys310Tyr
NM_001282678.2:c.305G>A	NP_001269607.1:p.Cys102Tyr