Canonical Allele Identifier: CA368159440

Gene: PEX1 GATAD1

Linked Data

• MyVariant Identifiers: chr7:g.92118652G>C (hg19) ; chr7:g.92489338G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92489338G>C , CM000669.2:g.92489338G>C	GRCh38
NC_000007.13:g.92118652G>C , CM000669.1:g.92118652G>C	GRCh37
NC_000007.12:g.91956588G>C	NCBI36
NG_008341.1:g.44194C>G
NG_008341.2:g.44194C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.3722C>G (PEX1) MANE Select	ENSP00000248633.4:p.Thr1241Arg
ENST00000248633.8:c.3722C>G (PEX1)	ENSP00000248633.4:p.Thr1241Arg
ENST00000428214.5:c.3551C>G (PEX1)	ENSP00000394413.1:p.Thr1184Arg
ENST00000438045.5:c.2756C>G (PEX1)	ENSP00000410438.1:p.Thr919Arg
ENST00000477342.1:n.457C>G (PEX1)
ENST00000484913.5:n.3761C>G (PEX1)
ENST00000496420.5:n.4772C>G (PEX1)
NM_000466.2:c.3722C>G (PEX1)	NP_000457.1:p.Thr1241Arg
NM_001282677.1:c.3551C>G (PEX1)	NP_001269606.1:p.Thr1184Arg
NM_001282678.1:c.3098C>G (PEX1)	NP_001269607.1:p.Thr1033Arg
XM_005250433.3:c.1973C>G (PEX1)	XP_005250490.1:p.Thr658Arg
XR_242246.3:n.3813C>G (PEX1)
XR_927494.1:n.1036-1905G>C (GATAD1)
XR_927495.1:n.1036-748G>C (GATAD1)
XR_927496.1:n.1041-1905G>C (GATAD1)
XR_927497.1:n.1036-748G>C (GATAD1)
XR_927498.1:n.1124-1905G>C (GATAD1)
XR_927500.1:n.1033-1905G>C (GATAD1)
XR_927502.1:n.1033-748G>C (GATAD1)
XR_927503.1:n.967-1905G>C (GATAD1)
XM_017012319.2:c.1973C>G (PEX1)	XP_016867808.1:p.Thr658Arg
XR_001744808.2:n.2744C>G (PEX1)
XR_001744842.2:n.2281-1905G>C (GATAD1)
XR_001744843.2:n.2212-1905G>C (GATAD1)
XR_002956472.1:n.2281-748G>C (GATAD1)
XR_002956473.1:n.2369-1905G>C (GATAD1)
XR_002956474.1:n.2286-1905G>C (GATAD1)
XR_242246.5:n.3764C>G (PEX1)
XR_927494.3:n.1063-1905G>C (GATAD1)
XR_927500.3:n.1060-1905G>C (GATAD1)
XR_927503.3:n.994-1905G>C (GATAD1)
NM_000466.3:c.3722C>G (PEX1) MANE Select	NP_000457.1:p.Thr1241Arg
NM_001282677.2:c.3551C>G (PEX1)	NP_001269606.1:p.Thr1184Arg
NM_001282678.2:c.3098C>G (PEX1)	NP_001269607.1:p.Thr1033Arg