Canonical Allele Identifier: CA2683718190

Gene: PEX1

Linked Data

• gnomAD v4: 7-92496891-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92496891T>G , CM000669.2:g.92496891T>G	GRCh38
NC_000007.13:g.92126205T>G , CM000669.1:g.92126205T>G	GRCh37
NC_000007.12:g.91964141T>G	NCBI36
NG_008341.1:g.36641A>C
NG_008341.2:g.36641A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2719-114A>C MANE Select	ENSP00000248633.4:n.2719-114A>C
ENST00000248633.8:c.2719-114A>C	ENSP00000248633.4:n.2719-114A>C
ENST00000428214.5:c.2548-114A>C	ENSP00000394413.1:n.2548-114A>C
ENST00000438045.5:c.1753-114A>C	ENSP00000410438.1:n.1753-114A>C
ENST00000484913.5:n.2758-114A>C
ENST00000496420.5:n.2611-114A>C
NM_000466.2:c.2719-114A>C	NP_000457.1:n.2719-114A>C
NM_001282677.1:c.2548-114A>C	NP_001269606.1:n.2548-114A>C
NM_001282678.1:c.2095-114A>C	NP_001269607.1:n.2095-114A>C
XM_005250433.3:c.970-114A>C	XP_005250490.1:n.970-114A>C
XR_242246.3:n.2815-114A>C
XM_017012319.2:c.970-114A>C	XP_016867808.1:n.970-114A>C
XR_001744808.2:n.1746-114A>C
XR_242246.5:n.2766-114A>C
NM_000466.3:c.2719-114A>C MANE Select	NP_000457.1:n.2719-114A>C
NM_001282677.2:c.2548-114A>C	NP_001269606.1:n.2548-114A>C
NM_001282678.2:c.2095-114A>C	NP_001269607.1:n.2095-114A>C