Canonical Allele Identifier: CA456481419

Gene: PEX1 GATAD1

Linked Data

• MyVariant Identifiers: chr7:g.92123613A>C (hg19)

Genomic Alleles

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

Transcript Alleles

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