Canonical Allele Identifier: CA210119

Gene: PEX1

Linked Data

• ClinVar Variation Id: 217429
• ClinVar RCV Id: RCV000201302 ; RCV001075087 ; RCV001377625 ; RCV002500626
• dbSNP Id: rs370483961
• ExAC: 7:92136369 C / G
• gnomAD v2: 7-92136369-C-G
• gnomAD v4: 7-92507055-C-G
• MyVariant Identifiers: chr7:g.92136369C>G (hg19) ; chr7:g.92507055C>G (hg38)
• PubMed: PMID:26387595

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92507055C>G , CM000669.2:g.92507055C>G	GRCh38
NC_000007.13:g.92136369C>G , CM000669.1:g.92136369C>G	GRCh37
NC_000007.12:g.91974305C>G	NCBI36
NG_008341.1:g.26477G>C
NG_008341.2:g.26477G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.1742G>C MANE Select	ENSP00000248633.4:p.Arg581Pro
ENST00000248633.8:c.1742G>C	ENSP00000248633.4:p.Arg581Pro
ENST00000422866.1:c.560G>C
ENST00000428214.5:c.1742G>C	ENSP00000394413.1:p.Arg581Pro
ENST00000438045.5:c.776G>C	ENSP00000410438.1:p.Arg259Pro
ENST00000484913.5:n.1781G>C
ENST00000496420.5:n.769G>C
NM_000466.2:c.1742G>C	NP_000457.1:p.Arg581Pro
NM_001282677.1:c.1742G>C	NP_001269606.1:p.Arg581Pro
NM_001282678.1:c.1118G>C	NP_001269607.1:p.Arg373Pro
XM_005250433.3:c.-8G>C	XP_005250490.1:n.-8G>C
XR_242246.3:n.1838G>C
XM_017012319.2:c.-8G>C	XP_016867808.1:n.-8G>C
XR_001744808.2:n.769G>C
XR_242246.5:n.1789G>C
NM_000466.3:c.1742G>C MANE Select	NP_000457.1:p.Arg581Pro
NM_001282677.2:c.1742G>C	NP_001269606.1:p.Arg581Pro
NM_001282678.2:c.1118G>C	NP_001269607.1:p.Arg373Pro