Canonical Allele Identifier: CA368167468

Gene: PEX1 GATAD1

Linked Data

• MyVariant Identifiers: chr7:g.92123653C>T (hg19) ; chr7:g.92494339C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92494339C>T , CM000669.2:g.92494339C>T	GRCh38
NC_000007.13:g.92123653C>T , CM000669.1:g.92123653C>T	GRCh37
NC_000007.12:g.91961589C>T	NCBI36
NG_008341.1:g.39193G>A
NG_008341.2:g.39193G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2984G>A (PEX1) MANE Select	ENSP00000248633.4:p.Arg995Lys
ENST00000248633.8:c.2984G>A (PEX1)	ENSP00000248633.4:p.Arg995Lys
ENST00000428214.5:c.2813G>A (PEX1)	ENSP00000394413.1:p.Arg938Lys
ENST00000438045.5:c.2018G>A (PEX1)	ENSP00000410438.1:p.Arg673Lys
ENST00000484913.5:n.3023G>A (PEX1)
ENST00000496420.5:n.2876G>A (PEX1)
NM_000466.2:c.2984G>A (PEX1)	NP_000457.1:p.Arg995Lys
NM_001282677.1:c.2813G>A (PEX1)	NP_001269606.1:p.Arg938Lys
NM_001282678.1:c.2360G>A (PEX1)	NP_001269607.1:p.Arg787Lys
XM_005250433.3:c.1235G>A (PEX1)	XP_005250490.1:p.Arg412Lys
XR_242246.3:n.3080G>A (PEX1)
XM_017012319.2:c.1235G>A (PEX1)	XP_016867808.1:p.Arg412Lys
XR_001744808.2:n.2011G>A (PEX1)
XR_001744843.2:n.5308C>T (GATAD1)
XR_242246.5:n.3031G>A (PEX1)
XR_927494.3:n.4159C>T (GATAD1)
XR_927503.3:n.4090C>T (GATAD1)
NM_000466.3:c.2984G>A (PEX1) MANE Select	NP_000457.1:p.Arg995Lys
NM_001282677.2:c.2813G>A (PEX1)	NP_001269606.1:p.Arg938Lys
NM_001282678.2:c.2360G>A (PEX1)	NP_001269607.1:p.Arg787Lys