Canonical Allele Identifier: CA2578937977

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92503019A>G , CM000669.2:g.92503019A>G	GRCh38
NC_000007.13:g.92132333A>G , CM000669.1:g.92132333A>G	GRCh37
NC_000007.12:g.91970269A>G	NCBI36
NG_008341.1:g.30513T>C
NG_008341.2:g.30513T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.2226+22T>C MANE Select	ENSP00000248633.4:n.2226+22T>C
ENST00000248633.8:c.2226+22T>C	ENSP00000248633.4:n.2226+22T>C
ENST00000428214.5:c.2055+22T>C	ENSP00000394413.1:n.2055+22T>C
ENST00000438045.5:c.1260+22T>C	ENSP00000410438.1:n.1260+22T>C
ENST00000484913.5:n.2265+22T>C
ENST00000496092.1:n.24+22T>C
ENST00000496420.5:n.1902+22T>C
NM_000466.2:c.2226+22T>C	NP_000457.1:n.2226+22T>C
NM_001282677.1:c.2055+22T>C	NP_001269606.1:n.2055+22T>C
NM_001282678.1:c.1602+22T>C	NP_001269607.1:n.1602+22T>C
XM_005250433.3:c.477+22T>C	XP_005250490.1:n.477+22T>C
XR_242246.3:n.2322+22T>C
XM_017012319.2:c.477+22T>C	XP_016867808.1:n.477+22T>C
XR_001744808.2:n.1253+22T>C
XR_242246.5:n.2273+22T>C
NM_000466.3:c.2226+22T>C MANE Select	NP_000457.1:n.2226+22T>C
NM_001282677.2:c.2055+22T>C	NP_001269606.1:n.2055+22T>C
NM_001282678.2:c.1602+22T>C	NP_001269607.1:n.1602+22T>C