Canonical Allele Identifier: CA2776946507

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92504979T>G , CM000669.2:g.92504979T>G	GRCh38
NC_000007.13:g.92134293T>G , CM000669.1:g.92134293T>G	GRCh37
NC_000007.12:g.91972229T>G	NCBI36
NG_008341.1:g.28553A>C
NG_008341.2:g.28553A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.1901-77A>C MANE Select	ENSP00000248633.4:n.1901-77A>C
ENST00000248633.8:c.1901-77A>C	ENSP00000248633.4:n.1901-77A>C
ENST00000422866.1:c.719-77A>C
ENST00000428214.5:c.1900+1269A>C	ENSP00000394413.1:n.1900+1269A>C
ENST00000438045.5:c.935-77A>C	ENSP00000410438.1:n.935-77A>C
ENST00000484913.5:n.1940-77A>C
ENST00000496420.5:n.1577-77A>C
NM_000466.2:c.1901-77A>C	NP_000457.1:n.1901-77A>C
NM_001282677.1:c.1900+1269A>C	NP_001269606.1:n.1900+1269A>C
NM_001282678.1:c.1277-77A>C	NP_001269607.1:n.1277-77A>C
XM_005250433.3:c.152-77A>C	XP_005250490.1:n.152-77A>C
XR_242246.3:n.1997-77A>C
XM_017012319.2:c.152-77A>C	XP_016867808.1:n.152-77A>C
XR_001744808.2:n.928-77A>C
XR_242246.5:n.1948-77A>C
NM_000466.3:c.1901-77A>C MANE Select	NP_000457.1:n.1901-77A>C
NM_001282677.2:c.1900+1269A>C	NP_001269606.1:n.1900+1269A>C
NM_001282678.2:c.1277-77A>C	NP_001269607.1:n.1277-77A>C