Canonical Allele Identifier: CA368167397

Gene: PEX1 GATAD1

Linked Data

• gnomAD v4: 7-92494330-C-G
• MyVariant Identifiers: chr7:g.92123644C>G (hg19) ; chr7:g.92494330C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92494330C>G , CM000669.2:g.92494330C>G	GRCh38
NC_000007.13:g.92123644C>G , CM000669.1:g.92123644C>G	GRCh37
NC_000007.12:g.91961580C>G	NCBI36
NG_008341.1:g.39202G>C
NG_008341.2:g.39202G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2993G>C (PEX1) MANE Select	ENSP00000248633.4:p.Arg998Pro
ENST00000248633.8:c.2993G>C (PEX1)	ENSP00000248633.4:p.Arg998Pro
ENST00000428214.5:c.2822G>C (PEX1)	ENSP00000394413.1:p.Arg941Pro
ENST00000438045.5:c.2027G>C (PEX1)	ENSP00000410438.1:p.Arg676Pro
ENST00000484913.5:n.3032G>C (PEX1)
ENST00000496420.5:n.2885G>C (PEX1)
NM_000466.2:c.2993G>C (PEX1)	NP_000457.1:p.Arg998Pro
NM_001282677.1:c.2822G>C (PEX1)	NP_001269606.1:p.Arg941Pro
NM_001282678.1:c.2369G>C (PEX1)	NP_001269607.1:p.Arg790Pro
XM_005250433.3:c.1244G>C (PEX1)	XP_005250490.1:p.Arg415Pro
XR_242246.3:n.3089G>C (PEX1)
XM_017012319.2:c.1244G>C (PEX1)	XP_016867808.1:p.Arg415Pro
XR_001744808.2:n.2020G>C (PEX1)
XR_001744843.2:n.5299C>G (GATAD1)
XR_242246.5:n.3040G>C (PEX1)
XR_927494.3:n.4150C>G (GATAD1)
XR_927503.3:n.4081C>G (GATAD1)
NM_000466.3:c.2993G>C (PEX1) MANE Select	NP_000457.1:p.Arg998Pro
NM_001282677.2:c.2822G>C (PEX1)	NP_001269606.1:p.Arg941Pro
NM_001282678.2:c.2369G>C (PEX1)	NP_001269607.1:p.Arg790Pro