Canonical Allele Identifier: CA4341409

Gene: PEX1

Linked Data

• ClinVar Variation Id: 360928
• ClinVar RCV Id: RCV000405009 ; RCV000728937 ; RCV001277057 ; RCV003970059
• dbSNP Id: rs565049190
• ExAC: 7:92140997 T / G
• gnomAD v2: 7-92140997-T-G
• gnomAD v3: 7-92511683-T-G
• gnomAD v4: 7-92511683-T-G
• MyVariant Identifiers: chr7:g.92140997T>G (hg19) ; chr7:g.92511683T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92511683T>G , CM000669.2:g.92511683T>G	GRCh38
NC_000007.13:g.92140997T>G , CM000669.1:g.92140997T>G	GRCh37
NC_000007.12:g.91978933T>G	NCBI36
NG_008341.1:g.21849A>C
NG_008341.2:g.21849A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.1380A>C MANE Select	ENSP00000248633.4:p.Glu460Asp
ENST00000248633.8:c.1380A>C	ENSP00000248633.4:p.Glu460Asp
ENST00000422866.1:c.281A>C
ENST00000428214.5:c.1380A>C	ENSP00000394413.1:p.Glu460Asp
ENST00000438045.5:c.414A>C	ENSP00000410438.1:p.Glu138Asp
ENST00000476923.1:n.141A>C
ENST00000484913.5:n.1419A>C
NM_000466.2:c.1380A>C	NP_000457.1:p.Glu460Asp
NM_001282677.1:c.1380A>C	NP_001269606.1:p.Glu460Asp
NM_001282678.1:c.756A>C	NP_001269607.1:p.Glu252Asp
XM_005250433.3:c.-287A>C	XP_005250490.1:n.-287A>C
XR_242246.3:n.1476A>C
XM_017012319.2:c.-287A>C	XP_016867808.1:n.-287A>C
XR_001744808.2:n.490A>C
XR_242246.5:n.1427A>C
NM_000466.3:c.1380A>C MANE Select	NP_000457.1:p.Glu460Asp
NM_001282677.2:c.1380A>C	NP_001269606.1:p.Glu460Asp
NM_001282678.2:c.756A>C	NP_001269607.1:p.Glu252Asp