Canonical Allele Identifier: CA456483986

Gene: PEX1

Linked Data

• dbSNP Id: rs1307385167
• gnomAD v2: 7-92147537-A-G
• gnomAD v4: 7-92518223-A-G
• MyVariant Identifiers: chr7:g.92147537A>G (hg19) ; chr7:g.92518223A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92518223A>G , CM000669.2:g.92518223A>G	GRCh38
NC_000007.13:g.92147537A>G , CM000669.1:g.92147537A>G	GRCh37
NC_000007.12:g.91985473A>G	NCBI36
NG_008341.1:g.15309T>C
NG_008341.2:g.15309T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.390T>C MANE Select	ENSP00000248633.4:p.Leu130=
ENST00000248633.8:c.390T>C	ENSP00000248633.4:p.Leu130=
ENST00000428214.5:c.390T>C	ENSP00000394413.1:p.Leu130=
ENST00000438045.5:c.273+3879T>C	ENSP00000410438.1:n.273+3879T>C
ENST00000484913.5:n.429T>C
NM_000466.2:c.390T>C	NP_000457.1:p.Leu130=
NM_001282677.1:c.390T>C	NP_001269606.1:p.Leu130=
NM_001282678.1:c.-235T>C	NP_001269607.1:n.-235T>C
XR_242246.3:n.486T>C
XR_242246.5:n.437T>C
NM_000466.3:c.390T>C MANE Select	NP_000457.1:p.Leu130=
NM_001282677.2:c.390T>C	NP_001269606.1:p.Leu130=
NM_001282678.2:c.-235T>C	NP_001269607.1:n.-235T>C