Canonical Allele Identifier: CA368168359

Gene: PEX1 GATAD1

Linked Data

• gnomAD v4: 7-92494513-T-G
• MyVariant Identifiers: chr7:g.92123827T>G (hg19) ; chr7:g.92494513T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92494513T>G , CM000669.2:g.92494513T>G	GRCh38
NC_000007.13:g.92123827T>G , CM000669.1:g.92123827T>G	GRCh37
NC_000007.12:g.91961763T>G	NCBI36
NG_008341.1:g.39019A>C
NG_008341.2:g.39019A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2900A>C (PEX1) MANE Select	ENSP00000248633.4:p.Gln967Pro
ENST00000248633.8:c.2900A>C (PEX1)	ENSP00000248633.4:p.Gln967Pro
ENST00000428214.5:c.2729A>C (PEX1)	ENSP00000394413.1:p.Gln910Pro
ENST00000438045.5:c.1934A>C (PEX1)	ENSP00000410438.1:p.Gln645Pro
ENST00000484913.5:n.2939A>C (PEX1)
ENST00000496420.5:n.2792A>C (PEX1)
NM_000466.2:c.2900A>C (PEX1)	NP_000457.1:p.Gln967Pro
NM_001282677.1:c.2729A>C (PEX1)	NP_001269606.1:p.Gln910Pro
NM_001282678.1:c.2276A>C (PEX1)	NP_001269607.1:p.Gln759Pro
XM_005250433.3:c.1151A>C (PEX1)	XP_005250490.1:p.Gln384Pro
XR_242246.3:n.2996A>C (PEX1)
XM_017012319.2:c.1151A>C (PEX1)	XP_016867808.1:p.Gln384Pro
XR_001744808.2:n.1927A>C (PEX1)
XR_001744843.2:n.5482T>G (GATAD1)
XR_242246.5:n.2947A>C (PEX1)
XR_927494.3:n.4333T>G (GATAD1)
XR_927503.3:n.4264T>G (GATAD1)
NM_000466.3:c.2900A>C (PEX1) MANE Select	NP_000457.1:p.Gln967Pro
NM_001282677.2:c.2729A>C (PEX1)	NP_001269606.1:p.Gln910Pro
NM_001282678.2:c.2276A>C (PEX1)	NP_001269607.1:p.Gln759Pro