Canonical Allele Identifier: CA161955790

Gene: PEX1 GATAD1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92494568G>A , CM000669.2:g.92494568G>A	GRCh38
NC_000007.13:g.92123882G>A , CM000669.1:g.92123882G>A	GRCh37
NC_000007.12:g.91961818G>A	NCBI36
NG_008341.1:g.38964C>T
NG_008341.2:g.38964C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000466.3:c.2845C>T (PEX1) MANE Select	NP_000457.1:p.Arg949Trp
ENST00000248633.9:c.2845C>T (PEX1) MANE Select	ENSP00000248633.4:p.Arg949Trp
NM_000466.2:c.2845C>T (PEX1)	NP_000457.1:p.Arg949Trp
NM_001282677.1:c.2674C>T (PEX1)	NP_001269606.1:p.Arg892Trp
NM_001282677.2:c.2674C>T (PEX1)	NP_001269606.1:p.Arg892Trp
NM_001282678.1:c.2221C>T (PEX1)	NP_001269607.1:p.Arg741Trp
NM_001282678.2:c.2221C>T (PEX1)	NP_001269607.1:p.Arg741Trp
ENST00000248633.8:c.2845C>T (PEX1)	ENSP00000248633.4:p.Arg949Trp
ENST00000428214.5:c.2674C>T (PEX1)	ENSP00000394413.1:p.Arg892Trp
ENST00000438045.5:c.1879C>T (PEX1)	ENSP00000410438.1:p.Arg627Trp
ENST00000484913.5:n.2884C>T (PEX1)
ENST00000496420.5:n.2737C>T (PEX1)
XM_005250433.3:c.1096C>T (PEX1)	XP_005250490.1:p.Arg366Trp
XM_017012319.2:c.1096C>T (PEX1)	XP_016867808.1:p.Arg366Trp
XR_001744808.2:n.1872C>T (PEX1)
XR_001744843.2:n.5537G>A (GATAD1)
XR_242246.3:n.2941C>T (PEX1)
XR_242246.5:n.2892C>T (PEX1)
XR_927494.3:n.4388G>A (GATAD1)
XR_927503.3:n.4319G>A (GATAD1)