Canonical Allele Identifier: CA368184185

Gene: PEX1

Linked Data

• MyVariant Identifiers: chr7:g.92134202T>A (hg19) ; chr7:g.92504888T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92504888T>A , CM000669.2:g.92504888T>A	GRCh38
NC_000007.13:g.92134202T>A , CM000669.1:g.92134202T>A	GRCh37
NC_000007.12:g.91972138T>A	NCBI36
NG_008341.1:g.28644A>T
NG_008341.2:g.28644A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.1915A>T MANE Select	ENSP00000248633.4:p.Asn639Tyr
ENST00000248633.8:c.1915A>T	ENSP00000248633.4:p.Asn639Tyr
ENST00000422866.1:c.733A>T
ENST00000428214.5:c.1900+1360A>T	ENSP00000394413.1:n.1900+1360A>T
ENST00000438045.5:c.949A>T	ENSP00000410438.1:p.Asn317Tyr
ENST00000484913.5:n.1954A>T
ENST00000496420.5:n.1591A>T
NM_000466.2:c.1915A>T	NP_000457.1:p.Asn639Tyr
NM_001282677.1:c.1900+1360A>T	NP_001269606.1:n.1900+1360A>T
NM_001282678.1:c.1291A>T	NP_001269607.1:p.Asn431Tyr
XM_005250433.3:c.166A>T	XP_005250490.1:p.Asn56Tyr
XR_242246.3:n.2011A>T
XM_017012319.2:c.166A>T	XP_016867808.1:p.Asn56Tyr
XR_001744808.2:n.942A>T
XR_242246.5:n.1962A>T
NM_000466.3:c.1915A>T MANE Select	NP_000457.1:p.Asn639Tyr
NM_001282677.2:c.1900+1360A>T	NP_001269606.1:n.1900+1360A>T
NM_001282678.2:c.1291A>T	NP_001269607.1:p.Asn431Tyr