Canonical Allele Identifier: CA4340941

Gene: PEX1 GATAD1

Linked Data

• ClinVar Variation Id: 495880
• ClinVar RCV Id: RCV000590014 ; RCV000818703 ; RCV000984292 ; RCV000984291 ; RCV001783092 ; RCV002232225
• dbSNP Id: rs61750428
• ExAC: 7:92123645 G / A
• gnomAD v2: 7-92123645-G-A
• gnomAD v3: 7-92494331-G-A
• gnomAD v4: 7-92494331-G-A
• MyVariant Identifiers: chr7:g.92123645G>A (hg19) ; chr7:g.92494331G>A (hg38)
• PubMed: PMID:19105186 ; PMID:25525159

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92494331G>A , CM000669.2:g.92494331G>A	GRCh38
NC_000007.13:g.92123645G>A , CM000669.1:g.92123645G>A	GRCh37
NC_000007.12:g.91961581G>A	NCBI36
NG_008341.1:g.39201C>T
NG_008341.2:g.39201C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2992C>T (PEX1) MANE Select	ENSP00000248633.4:p.Arg998Ter
ENST00000248633.8:c.2992C>T (PEX1)	ENSP00000248633.4:p.Arg998Ter
ENST00000428214.5:c.2821C>T (PEX1)	ENSP00000394413.1:p.Arg941Ter
ENST00000438045.5:c.2026C>T (PEX1)	ENSP00000410438.1:p.Arg676Ter
ENST00000484913.5:n.3031C>T (PEX1)
ENST00000496420.5:n.2884C>T (PEX1)
NM_000466.2:c.2992C>T (PEX1)	NP_000457.1:p.Arg998Ter
NM_001282677.1:c.2821C>T (PEX1)	NP_001269606.1:p.Arg941Ter
NM_001282678.1:c.2368C>T (PEX1)	NP_001269607.1:p.Arg790Ter
XM_005250433.3:c.1243C>T (PEX1)	XP_005250490.1:p.Arg415Ter
XR_242246.3:n.3088C>T (PEX1)
XM_017012319.2:c.1243C>T (PEX1)	XP_016867808.1:p.Arg415Ter
XR_001744808.2:n.2019C>T (PEX1)
XR_001744843.2:n.5300G>A (GATAD1)
XR_242246.5:n.3039C>T (PEX1)
XR_927494.3:n.4151G>A (GATAD1)
XR_927503.3:n.4082G>A (GATAD1)
NM_000466.3:c.2992C>T (PEX1) MANE Select	NP_000457.1:p.Arg998Ter
NM_001282677.2:c.2821C>T (PEX1)	NP_001269606.1:p.Arg941Ter
NM_001282678.2:c.2368C>T (PEX1)	NP_001269607.1:p.Arg790Ter