Canonical Allele Identifier: CA456481573

Gene: PEX1 GATAD1

Linked Data

• dbSNP Id: rs1190784889
• gnomAD v2: 7-92123837-A-G
• gnomAD v4: 7-92494523-A-G
• MyVariant Identifiers: chr7:g.92123837A>G (hg19) ; chr7:g.92494523A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92494523A>G , CM000669.2:g.92494523A>G	GRCh38
NC_000007.13:g.92123837A>G , CM000669.1:g.92123837A>G	GRCh37
NC_000007.12:g.91961773A>G	NCBI36
NG_008341.1:g.39009T>C
NG_008341.2:g.39009T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.2890T>C (PEX1) MANE Select	ENSP00000248633.4:p.Leu964=
ENST00000248633.8:c.2890T>C (PEX1)	ENSP00000248633.4:p.Leu964=
ENST00000428214.5:c.2719T>C (PEX1)	ENSP00000394413.1:p.Leu907=
ENST00000438045.5:c.1924T>C (PEX1)	ENSP00000410438.1:p.Leu642=
ENST00000484913.5:n.2929T>C (PEX1)
ENST00000496420.5:n.2782T>C (PEX1)
NM_000466.2:c.2890T>C (PEX1)	NP_000457.1:p.Leu964=
NM_001282677.1:c.2719T>C (PEX1)	NP_001269606.1:p.Leu907=
NM_001282678.1:c.2266T>C (PEX1)	NP_001269607.1:p.Leu756=
XM_005250433.3:c.1141T>C (PEX1)	XP_005250490.1:p.Leu381=
XR_242246.3:n.2986T>C (PEX1)
XM_017012319.2:c.1141T>C (PEX1)	XP_016867808.1:p.Leu381=
XR_001744808.2:n.1917T>C (PEX1)
XR_001744843.2:n.5492A>G (GATAD1)
XR_242246.5:n.2937T>C (PEX1)
XR_927494.3:n.4343A>G (GATAD1)
XR_927503.3:n.4274A>G (GATAD1)
NM_000466.3:c.2890T>C (PEX1) MANE Select	NP_000457.1:p.Leu964=
NM_001282677.2:c.2719T>C (PEX1)	NP_001269606.1:p.Leu907=
NM_001282678.2:c.2266T>C (PEX1)	NP_001269607.1:p.Leu756=