Canonical Allele Identifier: CA368183451

Gene: PEX1

Linked Data

• MyVariant Identifiers: chr7:g.92134120A>G (hg19) ; chr7:g.92504806A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92504806A>G , CM000669.2:g.92504806A>G	GRCh38
NC_000007.13:g.92134120A>G , CM000669.1:g.92134120A>G	GRCh37
NC_000007.12:g.91972056A>G	NCBI36
NG_008341.1:g.28726T>C
NG_008341.2:g.28726T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.1997T>C MANE Select	ENSP00000248633.4:p.Leu666Pro
ENST00000248633.8:c.1997T>C	ENSP00000248633.4:p.Leu666Pro
ENST00000428214.5:c.1900+1442T>C	ENSP00000394413.1:n.1900+1442T>C
ENST00000438045.5:c.1031T>C	ENSP00000410438.1:p.Leu344Pro
ENST00000484913.5:n.2036T>C
ENST00000496420.5:n.1673T>C
NM_000466.2:c.1997T>C	NP_000457.1:p.Leu666Pro
NM_001282677.1:c.1900+1442T>C	NP_001269606.1:n.1900+1442T>C
NM_001282678.1:c.1373T>C	NP_001269607.1:p.Leu458Pro
XM_005250433.3:c.248T>C	XP_005250490.1:p.Leu83Pro
XR_242246.3:n.2093T>C
XM_017012319.2:c.248T>C	XP_016867808.1:p.Leu83Pro
XR_001744808.2:n.1024T>C
XR_242246.5:n.2044T>C
NM_000466.3:c.1997T>C MANE Select	NP_000457.1:p.Leu666Pro
NM_001282677.2:c.1900+1442T>C	NP_001269606.1:n.1900+1442T>C
NM_001282678.2:c.1373T>C	NP_001269607.1:p.Leu458Pro