Canonical Allele Identifier: CA368168562

Gene: PEX1 GATAD1

Linked Data

• gnomAD v4: 7-92494552-G-T
• MyVariant Identifiers: chr7:g.92123866G>T (hg19) ; chr7:g.92494552G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92494552G>T , CM000669.2:g.92494552G>T	GRCh38
NC_000007.13:g.92123866G>T , CM000669.1:g.92123866G>T	GRCh37
NC_000007.12:g.91961802G>T	NCBI36
NG_008341.1:g.38980C>A
NG_008341.2:g.38980C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2861C>A (PEX1) MANE Select	ENSP00000248633.4:p.Thr954Lys
ENST00000248633.8:c.2861C>A (PEX1)	ENSP00000248633.4:p.Thr954Lys
ENST00000428214.5:c.2690C>A (PEX1)	ENSP00000394413.1:p.Thr897Lys
ENST00000438045.5:c.1895C>A (PEX1)	ENSP00000410438.1:p.Thr632Lys
ENST00000484913.5:n.2900C>A (PEX1)
ENST00000496420.5:n.2753C>A (PEX1)
NM_000466.2:c.2861C>A (PEX1)	NP_000457.1:p.Thr954Lys
NM_001282677.1:c.2690C>A (PEX1)	NP_001269606.1:p.Thr897Lys
NM_001282678.1:c.2237C>A (PEX1)	NP_001269607.1:p.Thr746Lys
XM_005250433.3:c.1112C>A (PEX1)	XP_005250490.1:p.Thr371Lys
XR_242246.3:n.2957C>A (PEX1)
XM_017012319.2:c.1112C>A (PEX1)	XP_016867808.1:p.Thr371Lys
XR_001744808.2:n.1888C>A (PEX1)
XR_001744843.2:n.5521G>T (GATAD1)
XR_242246.5:n.2908C>A (PEX1)
XR_927494.3:n.4372G>T (GATAD1)
XR_927503.3:n.4303G>T (GATAD1)
NM_000466.3:c.2861C>A (PEX1) MANE Select	NP_000457.1:p.Thr954Lys
NM_001282677.2:c.2690C>A (PEX1)	NP_001269606.1:p.Thr897Lys
NM_001282678.2:c.2237C>A (PEX1)	NP_001269607.1:p.Thr746Lys