Canonical Allele Identifier: CA368167435

Gene: PEX1 GATAD1

Linked Data

• MyVariant Identifiers: chr7:g.92123650G>C (hg19) ; chr7:g.92494336G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92494336G>C , CM000669.2:g.92494336G>C	GRCh38
NC_000007.13:g.92123650G>C , CM000669.1:g.92123650G>C	GRCh37
NC_000007.12:g.91961586G>C	NCBI36
NG_008341.1:g.39196C>G
NG_008341.2:g.39196C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2987C>G (PEX1) MANE Select	ENSP00000248633.4:p.Pro996Arg
ENST00000248633.8:c.2987C>G (PEX1)	ENSP00000248633.4:p.Pro996Arg
ENST00000428214.5:c.2816C>G (PEX1)	ENSP00000394413.1:p.Pro939Arg
ENST00000438045.5:c.2021C>G (PEX1)	ENSP00000410438.1:p.Pro674Arg
ENST00000484913.5:n.3026C>G (PEX1)
ENST00000496420.5:n.2879C>G (PEX1)
NM_000466.2:c.2987C>G (PEX1)	NP_000457.1:p.Pro996Arg
NM_001282677.1:c.2816C>G (PEX1)	NP_001269606.1:p.Pro939Arg
NM_001282678.1:c.2363C>G (PEX1)	NP_001269607.1:p.Pro788Arg
XM_005250433.3:c.1238C>G (PEX1)	XP_005250490.1:p.Pro413Arg
XR_242246.3:n.3083C>G (PEX1)
XM_017012319.2:c.1238C>G (PEX1)	XP_016867808.1:p.Pro413Arg
XR_001744808.2:n.2014C>G (PEX1)
XR_001744843.2:n.5305G>C (GATAD1)
XR_242246.5:n.3034C>G (PEX1)
XR_927494.3:n.4156G>C (GATAD1)
XR_927503.3:n.4087G>C (GATAD1)
NM_000466.3:c.2987C>G (PEX1) MANE Select	NP_000457.1:p.Pro996Arg
NM_001282677.2:c.2816C>G (PEX1)	NP_001269606.1:p.Pro939Arg
NM_001282678.2:c.2363C>G (PEX1)	NP_001269607.1:p.Pro788Arg