Canonical Allele Identifier: CA274065

Gene: PEX1

Linked Data

• ClinVar Variation Id: 188873
• ClinVar RCV Id: RCV000169227 ; RCV000657614 ; RCV001004323 ; RCV001220088 ; RCV002265653 ; RCV003474901
• dbSNP Id: rs61750418
• ExAC: 7:92131237 G / A
• gnomAD v2: 7-92131237-G-A
• gnomAD v3: 7-92501923-G-A
• gnomAD v4: 7-92501923-G-A
• MyVariant Identifiers: chr7:g.92131237G>A (hg19) ; chr7:g.92501923G>A (hg38)
• PubMed: PMID:10447258 ; PMID:16086329 ; PMID:16141001 ; PMID:21031596 ; PMID:21846392

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92501923G>A , CM000669.2:g.92501923G>A	GRCh38
NC_000007.13:g.92131237G>A , CM000669.1:g.92131237G>A	GRCh37
NC_000007.12:g.91969173G>A	NCBI36
NG_008341.1:g.31609C>T
NG_008341.2:g.31609C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2383C>T MANE Select	ENSP00000248633.4:p.Arg795Ter
ENST00000248633.8:c.2383C>T	ENSP00000248633.4:p.Arg795Ter
ENST00000428214.5:c.2212C>T	ENSP00000394413.1:p.Arg738Ter
ENST00000438045.5:c.1417C>T	ENSP00000410438.1:p.Arg473Ter
ENST00000484913.5:n.2422C>T
ENST00000496092.1:n.181C>T
ENST00000496420.5:n.2059C>T
NM_000466.2:c.2383C>T	NP_000457.1:p.Arg795Ter
NM_001282677.1:c.2212C>T	NP_001269606.1:p.Arg738Ter
NM_001282678.1:c.1759C>T	NP_001269607.1:p.Arg587Ter
XM_005250433.3:c.634C>T	XP_005250490.1:p.Arg212Ter
XR_242246.3:n.2479C>T
XM_017012319.2:c.634C>T	XP_016867808.1:p.Arg212Ter
XR_001744808.2:n.1410C>T
XR_242246.5:n.2430C>T
NM_000466.3:c.2383C>T MANE Select	NP_000457.1:p.Arg795Ter
NM_001282677.2:c.2212C>T	NP_001269606.1:p.Arg738Ter
NM_001282678.2:c.1759C>T	NP_001269607.1:p.Arg587Ter