Canonical Allele Identifier: CA368188245

Gene: PEX1

Linked Data

• MyVariant Identifiers: chr7:g.92138655A>T (hg19) ; chr7:g.92509341A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92509341A>T , CM000669.2:g.92509341A>T	GRCh38
NC_000007.13:g.92138655A>T , CM000669.1:g.92138655A>T	GRCh37
NC_000007.12:g.91976591A>T	NCBI36
NG_008341.1:g.24191T>A
NG_008341.2:g.24191T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.1658T>A MANE Select	ENSP00000248633.4:p.Leu553Gln
ENST00000248633.8:c.1658T>A	ENSP00000248633.4:p.Leu553Gln
ENST00000422866.1:c.488+1603T>A
ENST00000428214.5:c.1658T>A	ENSP00000394413.1:p.Leu553Gln
ENST00000438045.5:c.692T>A	ENSP00000410438.1:p.Leu231Gln
ENST00000484913.5:n.1697T>A
NM_000466.2:c.1658T>A	NP_000457.1:p.Leu553Gln
NM_001282677.1:c.1658T>A	NP_001269606.1:p.Leu553Gln
NM_001282678.1:c.1034T>A	NP_001269607.1:p.Leu345Gln
XM_005250433.3:c.-80+1603T>A	XP_005250490.1:n.-80+1603T>A
XR_242246.3:n.1754T>A
XM_017012319.2:c.-80+1603T>A	XP_016867808.1:n.-80+1603T>A
XR_001744808.2:n.697+1603T>A
XR_242246.5:n.1705T>A
NM_000466.3:c.1658T>A MANE Select	NP_000457.1:p.Leu553Gln
NM_001282677.2:c.1658T>A	NP_001269606.1:p.Leu553Gln
NM_001282678.2:c.1034T>A	NP_001269607.1:p.Leu345Gln