Canonical Allele Identifier: CA368168449

Gene: PEX1 GATAD1

Linked Data

• MyVariant Identifiers: chr7:g.92123837A>T (hg19) ; chr7:g.92494523A>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.2890T>A (PEX1) MANE Select	ENSP00000248633.4:p.Leu964Met
ENST00000248633.8:c.2890T>A (PEX1)	ENSP00000248633.4:p.Leu964Met
ENST00000428214.5:c.2719T>A (PEX1)	ENSP00000394413.1:p.Leu907Met
ENST00000438045.5:c.1924T>A (PEX1)	ENSP00000410438.1:p.Leu642Met
ENST00000484913.5:n.2929T>A (PEX1)
ENST00000496420.5:n.2782T>A (PEX1)
NM_000466.2:c.2890T>A (PEX1)	NP_000457.1:p.Leu964Met
NM_001282677.1:c.2719T>A (PEX1)	NP_001269606.1:p.Leu907Met
NM_001282678.1:c.2266T>A (PEX1)	NP_001269607.1:p.Leu756Met
XM_005250433.3:c.1141T>A (PEX1)	XP_005250490.1:p.Leu381Met
XR_242246.3:n.2986T>A (PEX1)
XM_017012319.2:c.1141T>A (PEX1)	XP_016867808.1:p.Leu381Met
XR_001744808.2:n.1917T>A (PEX1)
XR_001744843.2:n.5492A>T (GATAD1)
XR_242246.5:n.2937T>A (PEX1)
XR_927494.3:n.4343A>T (GATAD1)
XR_927503.3:n.4274A>T (GATAD1)
NM_000466.3:c.2890T>A (PEX1) MANE Select	NP_000457.1:p.Leu964Met
NM_001282677.2:c.2719T>A (PEX1)	NP_001269606.1:p.Leu907Met
NM_001282678.2:c.2266T>A (PEX1)	NP_001269607.1:p.Leu756Met