Canonical Allele Identifier: CA4341024

Gene: PEX1

Linked Data

• ClinVar Variation Id: 908619
• ClinVar RCV Id: RCV001159198
• dbSNP Id: rs780992963
• ExAC: 7:92126043 G / A
• gnomAD v2: 7-92126043-G-A
• gnomAD v3: 7-92496729-G-A
• gnomAD v4: 7-92496729-G-A
• COSMIC: COSM6412079
• MyVariant Identifiers: chr7:g.92126043G>A (hg19) ; chr7:g.92496729G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92496729G>A , CM000669.2:g.92496729G>A	GRCh38
NC_000007.13:g.92126043G>A , CM000669.1:g.92126043G>A	GRCh37
NC_000007.12:g.91963979G>A	NCBI36
NG_008341.1:g.36803C>T
NG_008341.2:g.36803C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.2767C>T MANE Select	ENSP00000248633.4:p.Arg923Trp
ENST00000248633.8:c.2767C>T	ENSP00000248633.4:p.Arg923Trp
ENST00000428214.5:c.2596C>T	ENSP00000394413.1:p.Arg866Trp
ENST00000438045.5:c.1801C>T	ENSP00000410438.1:p.Arg601Trp
ENST00000484913.5:n.2806C>T
ENST00000496420.5:n.2659C>T
NM_000466.2:c.2767C>T	NP_000457.1:p.Arg923Trp
NM_001282677.1:c.2596C>T	NP_001269606.1:p.Arg866Trp
NM_001282678.1:c.2143C>T	NP_001269607.1:p.Arg715Trp
XM_005250433.3:c.1018C>T	XP_005250490.1:p.Arg340Trp
XR_242246.3:n.2863C>T
XM_017012319.2:c.1018C>T	XP_016867808.1:p.Arg340Trp
XR_001744808.2:n.1794C>T
XR_242246.5:n.2814C>T
NM_000466.3:c.2767C>T MANE Select	NP_000457.1:p.Arg923Trp
NM_001282677.2:c.2596C>T	NP_001269606.1:p.Arg866Trp
NM_001282678.2:c.2143C>T	NP_001269607.1:p.Arg715Trp