Canonical Allele Identifier: CA2578937887

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92496833G>A , CM000669.2:g.92496833G>A	GRCh38
NC_000007.13:g.92126147G>A , CM000669.1:g.92126147G>A	GRCh37
NC_000007.12:g.91964083G>A	NCBI36
NG_008341.1:g.36699C>T
NG_008341.2:g.36699C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.2719-56C>T MANE Select	ENSP00000248633.4:n.2719-56C>T
ENST00000248633.8:c.2719-56C>T	ENSP00000248633.4:n.2719-56C>T
ENST00000428214.5:c.2548-56C>T	ENSP00000394413.1:n.2548-56C>T
ENST00000438045.5:c.1753-56C>T	ENSP00000410438.1:n.1753-56C>T
ENST00000484913.5:n.2758-56C>T
ENST00000496420.5:n.2611-56C>T
NM_000466.2:c.2719-56C>T	NP_000457.1:n.2719-56C>T
NM_001282677.1:c.2548-56C>T	NP_001269606.1:n.2548-56C>T
NM_001282678.1:c.2095-56C>T	NP_001269607.1:n.2095-56C>T
XM_005250433.3:c.970-56C>T	XP_005250490.1:n.970-56C>T
XR_242246.3:n.2815-56C>T
XM_017012319.2:c.970-56C>T	XP_016867808.1:n.970-56C>T
XR_001744808.2:n.1746-56C>T
XR_242246.5:n.2766-56C>T
NM_000466.3:c.2719-56C>T MANE Select	NP_000457.1:n.2719-56C>T
NM_001282677.2:c.2548-56C>T	NP_001269606.1:n.2548-56C>T
NM_001282678.2:c.2095-56C>T	NP_001269607.1:n.2095-56C>T