Canonical Allele Identifier: CA368167497

Gene: PEX1 GATAD1

Linked Data

• MyVariant Identifiers: chr7:g.92123657G>T (hg19) ; chr7:g.92494343G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92494343G>T , CM000669.2:g.92494343G>T	GRCh38
NC_000007.13:g.92123657G>T , CM000669.1:g.92123657G>T	GRCh37
NC_000007.12:g.91961593G>T	NCBI36
NG_008341.1:g.39189C>A
NG_008341.2:g.39189C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2980C>A (PEX1) MANE Select	ENSP00000248633.4:p.Leu994Ile
ENST00000248633.8:c.2980C>A (PEX1)	ENSP00000248633.4:p.Leu994Ile
ENST00000428214.5:c.2809C>A (PEX1)	ENSP00000394413.1:p.Leu937Ile
ENST00000438045.5:c.2014C>A (PEX1)	ENSP00000410438.1:p.Leu672Ile
ENST00000484913.5:n.3019C>A (PEX1)
ENST00000496420.5:n.2872C>A (PEX1)
NM_000466.2:c.2980C>A (PEX1)	NP_000457.1:p.Leu994Ile
NM_001282677.1:c.2809C>A (PEX1)	NP_001269606.1:p.Leu937Ile
NM_001282678.1:c.2356C>A (PEX1)	NP_001269607.1:p.Leu786Ile
XM_005250433.3:c.1231C>A (PEX1)	XP_005250490.1:p.Leu411Ile
XR_242246.3:n.3076C>A (PEX1)
XM_017012319.2:c.1231C>A (PEX1)	XP_016867808.1:p.Leu411Ile
XR_001744808.2:n.2007C>A (PEX1)
XR_001744843.2:n.5312G>T (GATAD1)
XR_242246.5:n.3027C>A (PEX1)
XR_927494.3:n.4163G>T (GATAD1)
XR_927503.3:n.4094G>T (GATAD1)
NM_000466.3:c.2980C>A (PEX1) MANE Select	NP_000457.1:p.Leu994Ile
NM_001282677.2:c.2809C>A (PEX1)	NP_001269606.1:p.Leu937Ile
NM_001282678.2:c.2356C>A (PEX1)	NP_001269607.1:p.Leu786Ile