Canonical Allele Identifier: CA4341604

Gene: PEX1

Linked Data

• ClinVar Variation Id: 285002
• ClinVar RCV Id: RCV000271066 ; RCV000543039 ; RCV001507194 ; RCV003437049 ; RCV003940002
• dbSNP Id: rs149729088
• ExAC: 7:92147459 T / C
• gnomAD v2: 7-92147459-T-C
• gnomAD v3: 7-92518145-T-C
• gnomAD v4: 7-92518145-T-C
• MyVariant Identifiers: chr7:g.92147459T>C (hg19) ; chr7:g.92518145T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92518145T>C , CM000669.2:g.92518145T>C	GRCh38
NC_000007.13:g.92147459T>C , CM000669.1:g.92147459T>C	GRCh37
NC_000007.12:g.91985395T>C	NCBI36
NG_008341.1:g.15387A>G
NG_008341.2:g.15387A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.468A>G MANE Select	ENSP00000248633.4:p.Gln156=
ENST00000248633.8:c.468A>G	ENSP00000248633.4:p.Gln156=
ENST00000428214.5:c.468A>G	ENSP00000394413.1:p.Gln156=
ENST00000438045.5:c.273+3957A>G	ENSP00000410438.1:n.273+3957A>G
ENST00000484913.5:n.507A>G
NM_000466.2:c.468A>G	NP_000457.1:p.Gln156=
NM_001282677.1:c.468A>G	NP_001269606.1:p.Gln156=
NM_001282678.1:c.-157A>G	NP_001269607.1:n.-157A>G
XR_242246.3:n.564A>G
XR_242246.5:n.515A>G
NM_000466.3:c.468A>G MANE Select	NP_000457.1:p.Gln156=
NM_001282677.2:c.468A>G	NP_001269606.1:p.Gln156=
NM_001282678.2:c.-157A>G	NP_001269607.1:n.-157A>G