Canonical Allele Identifier: CA2776945661

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92496871A>C , CM000669.2:g.92496871A>C	GRCh38
NC_000007.13:g.92126185A>C , CM000669.1:g.92126185A>C	GRCh37
NC_000007.12:g.91964121A>C	NCBI36
NG_008341.1:g.36661T>G
NG_008341.2:g.36661T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2719-94T>G MANE Select	ENSP00000248633.4:n.2719-94T>G
ENST00000248633.8:c.2719-94T>G	ENSP00000248633.4:n.2719-94T>G
ENST00000428214.5:c.2548-94T>G	ENSP00000394413.1:n.2548-94T>G
ENST00000438045.5:c.1753-94T>G	ENSP00000410438.1:n.1753-94T>G
ENST00000484913.5:n.2758-94T>G
ENST00000496420.5:n.2611-94T>G
NM_000466.2:c.2719-94T>G	NP_000457.1:n.2719-94T>G
NM_001282677.1:c.2548-94T>G	NP_001269606.1:n.2548-94T>G
NM_001282678.1:c.2095-94T>G	NP_001269607.1:n.2095-94T>G
XM_005250433.3:c.970-94T>G	XP_005250490.1:n.970-94T>G
XR_242246.3:n.2815-94T>G
XM_017012319.2:c.970-94T>G	XP_016867808.1:n.970-94T>G
XR_001744808.2:n.1746-94T>G
XR_242246.5:n.2766-94T>G
NM_000466.3:c.2719-94T>G MANE Select	NP_000457.1:n.2719-94T>G
NM_001282677.2:c.2548-94T>G	NP_001269606.1:n.2548-94T>G
NM_001282678.2:c.2095-94T>G	NP_001269607.1:n.2095-94T>G