Canonical Allele Identifier: CA368202233

Gene: PEX1

Linked Data

• MyVariant Identifiers: chr7:g.92147499A>T (hg19) ; chr7:g.92518185A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92518185A>T , CM000669.2:g.92518185A>T	GRCh38
NC_000007.13:g.92147499A>T , CM000669.1:g.92147499A>T	GRCh37
NC_000007.12:g.91985435A>T	NCBI36
NG_008341.1:g.15347T>A
NG_008341.2:g.15347T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.428T>A MANE Select	ENSP00000248633.4:p.Phe143Tyr
ENST00000248633.8:c.428T>A	ENSP00000248633.4:p.Phe143Tyr
ENST00000428214.5:c.428T>A	ENSP00000394413.1:p.Phe143Tyr
ENST00000438045.5:c.273+3917T>A	ENSP00000410438.1:n.273+3917T>A
ENST00000484913.5:n.467T>A
NM_000466.2:c.428T>A	NP_000457.1:p.Phe143Tyr
NM_001282677.1:c.428T>A	NP_001269606.1:p.Phe143Tyr
NM_001282678.1:c.-197T>A	NP_001269607.1:n.-197T>A
XR_242246.3:n.524T>A
XR_242246.5:n.475T>A
NM_000466.3:c.428T>A MANE Select	NP_000457.1:p.Phe143Tyr
NM_001282677.2:c.428T>A	NP_001269606.1:p.Phe143Tyr
NM_001282678.2:c.-197T>A	NP_001269607.1:n.-197T>A