Canonical Allele Identifier: CA456481460

Gene: PEX1 GATAD1

Linked Data

• MyVariant Identifiers: chr7:g.92123664A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92494350A>C , CM000669.2:g.92494350A>C	GRCh38
NC_000007.13:g.92123664A>C , CM000669.1:g.92123664A>C	GRCh37
NC_000007.12:g.91961600A>C	NCBI36
NG_008341.1:g.39182T>G
NG_008341.2:g.39182T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2973T>G (PEX1) MANE Select	ENSP00000248633.4:p.Pro991=
ENST00000248633.8:c.2973T>G (PEX1)	ENSP00000248633.4:p.Pro991=
ENST00000428214.5:c.2802T>G (PEX1)	ENSP00000394413.1:p.Pro934=
ENST00000438045.5:c.2007T>G (PEX1)	ENSP00000410438.1:p.Pro669=
ENST00000484913.5:n.3012T>G (PEX1)
ENST00000496420.5:n.2865T>G (PEX1)
NM_000466.2:c.2973T>G (PEX1)	NP_000457.1:p.Pro991=
NM_001282677.1:c.2802T>G (PEX1)	NP_001269606.1:p.Pro934=
NM_001282678.1:c.2349T>G (PEX1)	NP_001269607.1:p.Pro783=
XM_005250433.3:c.1224T>G (PEX1)	XP_005250490.1:p.Pro408=
XR_242246.3:n.3069T>G (PEX1)
XM_017012319.2:c.1224T>G (PEX1)	XP_016867808.1:p.Pro408=
XR_001744808.2:n.2000T>G (PEX1)
XR_001744843.2:n.5319A>C (GATAD1)
XR_242246.5:n.3020T>G (PEX1)
XR_927494.3:n.4170A>C (GATAD1)
XR_927503.3:n.4101A>C (GATAD1)
NM_000466.3:c.2973T>G (PEX1) MANE Select	NP_000457.1:p.Pro991=
NM_001282677.2:c.2802T>G (PEX1)	NP_001269606.1:p.Pro934=
NM_001282678.2:c.2349T>G (PEX1)	NP_001269607.1:p.Pro783=