Canonical Allele Identifier: CA456481420

Gene: PEX1 GATAD1

Linked Data

• gnomAD v4: 7-92494299-A-G
• MyVariant Identifiers: chr7:g.92123613A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92494299A>G , CM000669.2:g.92494299A>G	GRCh38
NC_000007.13:g.92123613A>G , CM000669.1:g.92123613A>G	GRCh37
NC_000007.12:g.91961549A>G	NCBI36
NG_008341.1:g.39233T>C
NG_008341.2:g.39233T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.3024T>C (PEX1) MANE Select	ENSP00000248633.4:p.Pro1008=
ENST00000248633.8:c.3024T>C (PEX1)	ENSP00000248633.4:p.Pro1008=
ENST00000428214.5:c.2853T>C (PEX1)	ENSP00000394413.1:p.Pro951=
ENST00000438045.5:c.2058T>C (PEX1)	ENSP00000410438.1:p.Pro686=
ENST00000484913.5:n.3063T>C (PEX1)
ENST00000496420.5:n.2916T>C (PEX1)
NM_000466.2:c.3024T>C (PEX1)	NP_000457.1:p.Pro1008=
NM_001282677.1:c.2853T>C (PEX1)	NP_001269606.1:p.Pro951=
NM_001282678.1:c.2400T>C (PEX1)	NP_001269607.1:p.Pro800=
XM_005250433.3:c.1275T>C (PEX1)	XP_005250490.1:p.Pro425=
XR_242246.3:n.3120T>C (PEX1)
XM_017012319.2:c.1275T>C (PEX1)	XP_016867808.1:p.Pro425=
XR_001744808.2:n.2051T>C (PEX1)
XR_001744843.2:n.5268A>G (GATAD1)
XR_242246.5:n.3071T>C (PEX1)
XR_927494.3:n.4119A>G (GATAD1)
XR_927503.3:n.4050A>G (GATAD1)
NM_000466.3:c.3024T>C (PEX1) MANE Select	NP_000457.1:p.Pro1008=
NM_001282677.2:c.2853T>C (PEX1)	NP_001269606.1:p.Pro951=
NM_001282678.2:c.2400T>C (PEX1)	NP_001269607.1:p.Pro800=