Canonical Allele Identifier: CA4340995

Gene: PEX1 GATAD1

Linked Data

• ClinVar Variation Id: 282809
• ClinVar RCV Id: RCV000304199 ; RCV000311034 ; RCV001240601 ; RCV003930068
• dbSNP Id: rs374167385
• ExAC: 7:92123885 G / A
• gnomAD v2: 7-92123885-G-A
• gnomAD v3: 7-92494571-G-A
• gnomAD v4: 7-92494571-G-A
• COSMIC: COSM1093058
• MyVariant Identifiers: chr7:g.92123885G>A (hg19) ; chr7:g.92494571G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92494571G>A , CM000669.2:g.92494571G>A	GRCh38
NC_000007.13:g.92123885G>A , CM000669.1:g.92123885G>A	GRCh37
NC_000007.12:g.91961821G>A	NCBI36
NG_008341.1:g.38961C>T
NG_008341.2:g.38961C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2842C>T (PEX1) MANE Select	ENSP00000248633.4:p.Arg948Trp
ENST00000248633.8:c.2842C>T (PEX1)	ENSP00000248633.4:p.Arg948Trp
ENST00000428214.5:c.2671C>T (PEX1)	ENSP00000394413.1:p.Arg891Trp
ENST00000438045.5:c.1876C>T (PEX1)	ENSP00000410438.1:p.Arg626Trp
ENST00000484913.5:n.2881C>T (PEX1)
ENST00000496420.5:n.2734C>T (PEX1)
NM_000466.2:c.2842C>T (PEX1)	NP_000457.1:p.Arg948Trp
NM_001282677.1:c.2671C>T (PEX1)	NP_001269606.1:p.Arg891Trp
NM_001282678.1:c.2218C>T (PEX1)	NP_001269607.1:p.Arg740Trp
XM_005250433.3:c.1093C>T (PEX1)	XP_005250490.1:p.Arg365Trp
XR_242246.3:n.2938C>T (PEX1)
XM_017012319.2:c.1093C>T (PEX1)	XP_016867808.1:p.Arg365Trp
XR_001744808.2:n.1869C>T (PEX1)
XR_001744843.2:n.5540G>A (GATAD1)
XR_242246.5:n.2889C>T (PEX1)
XR_927494.3:n.4391G>A (GATAD1)
XR_927503.3:n.4322G>A (GATAD1)
NM_000466.3:c.2842C>T (PEX1) MANE Select	NP_000457.1:p.Arg948Trp
NM_001282677.2:c.2671C>T (PEX1)	NP_001269606.1:p.Arg891Trp
NM_001282678.2:c.2218C>T (PEX1)	NP_001269607.1:p.Arg740Trp