Canonical Allele Identifier: CA368167660

Gene: PEX1 GATAD1

Linked Data

• MyVariant Identifiers: chr7:g.92123684G>C (hg19) ; chr7:g.92494370G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92494370G>C , CM000669.2:g.92494370G>C	GRCh38
NC_000007.13:g.92123684G>C , CM000669.1:g.92123684G>C	GRCh37
NC_000007.12:g.91961620G>C	NCBI36
NG_008341.1:g.39162C>G
NG_008341.2:g.39162C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.2953C>G (PEX1) MANE Select	ENSP00000248633.4:p.Arg985Gly
ENST00000248633.8:c.2953C>G (PEX1)	ENSP00000248633.4:p.Arg985Gly
ENST00000428214.5:c.2782C>G (PEX1)	ENSP00000394413.1:p.Arg928Gly
ENST00000438045.5:c.1987C>G (PEX1)	ENSP00000410438.1:p.Arg663Gly
ENST00000484913.5:n.2992C>G (PEX1)
ENST00000496420.5:n.2845C>G (PEX1)
NM_000466.2:c.2953C>G (PEX1)	NP_000457.1:p.Arg985Gly
NM_001282677.1:c.2782C>G (PEX1)	NP_001269606.1:p.Arg928Gly
NM_001282678.1:c.2329C>G (PEX1)	NP_001269607.1:p.Arg777Gly
XM_005250433.3:c.1204C>G (PEX1)	XP_005250490.1:p.Arg402Gly
XR_242246.3:n.3049C>G (PEX1)
XM_017012319.2:c.1204C>G (PEX1)	XP_016867808.1:p.Arg402Gly
XR_001744808.2:n.1980C>G (PEX1)
XR_001744843.2:n.5339G>C (GATAD1)
XR_242246.5:n.3000C>G (PEX1)
XR_927494.3:n.4190G>C (GATAD1)
XR_927503.3:n.4121G>C (GATAD1)
NM_000466.3:c.2953C>G (PEX1) MANE Select	NP_000457.1:p.Arg985Gly
NM_001282677.2:c.2782C>G (PEX1)	NP_001269606.1:p.Arg928Gly
NM_001282678.2:c.2329C>G (PEX1)	NP_001269607.1:p.Arg777Gly