Canonical Allele Identifier: CA368198986

Gene: PEX1

Linked Data

• MyVariant Identifiers: chr7:g.92146909T>A (hg19) ; chr7:g.92517595T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92517595T>A , CM000669.2:g.92517595T>A	GRCh38
NC_000007.13:g.92146909T>A , CM000669.1:g.92146909T>A	GRCh37
NC_000007.12:g.91984845T>A	NCBI36
NG_008341.1:g.15937A>T
NG_008341.2:g.15937A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.920A>T MANE Select	ENSP00000248633.4:p.His307Leu
ENST00000248633.8:c.920A>T	ENSP00000248633.4:p.His307Leu
ENST00000428214.5:c.920A>T	ENSP00000394413.1:p.His307Leu
ENST00000438045.5:c.274-3628A>T	ENSP00000410438.1:n.274-3628A>T
ENST00000484913.5:n.959A>T
NM_000466.2:c.920A>T	NP_000457.1:p.His307Leu
NM_001282677.1:c.920A>T	NP_001269606.1:p.His307Leu
NM_001282678.1:c.296A>T	NP_001269607.1:p.His99Leu
XR_242246.3:n.1016A>T
XM_017012319.2:c.-747A>T	XP_016867808.1:n.-747A>T
XR_001744808.2:n.30A>T
XR_242246.5:n.967A>T
NM_000466.3:c.920A>T MANE Select	NP_000457.1:p.His307Leu
NM_001282677.2:c.920A>T	NP_001269606.1:p.His307Leu
NM_001282678.2:c.296A>T	NP_001269607.1:p.His99Leu