Canonical Allele Identifier: CA368163498

Gene: PEX1 GATAD1

Linked Data

• MyVariant Identifiers: chr7:g.92120630T>G (hg19) ; chr7:g.92491316T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92491316T>G , CM000669.2:g.92491316T>G	GRCh38
NC_000007.13:g.92120630T>G , CM000669.1:g.92120630T>G	GRCh37
NC_000007.12:g.91958566T>G	NCBI36
NG_008341.1:g.42216A>C
NG_008341.2:g.42216A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.3394A>C (PEX1) MANE Select	ENSP00000248633.4:p.Ser1132Arg
ENST00000248633.8:c.3394A>C (PEX1)	ENSP00000248633.4:p.Ser1132Arg
ENST00000428214.5:c.3223A>C (PEX1)	ENSP00000394413.1:p.Ser1075Arg
ENST00000438045.5:c.2428A>C (PEX1)	ENSP00000410438.1:p.Ser810Arg
ENST00000484913.5:n.3433A>C (PEX1)
ENST00000496420.5:n.4449A>C (PEX1)
NM_000466.2:c.3394A>C (PEX1)	NP_000457.1:p.Ser1132Arg
NM_001282677.1:c.3223A>C (PEX1)	NP_001269606.1:p.Ser1075Arg
NM_001282678.1:c.2770A>C (PEX1)	NP_001269607.1:p.Ser924Arg
XM_005250433.3:c.1645A>C (PEX1)	XP_005250490.1:p.Ser549Arg
XR_242246.3:n.3490A>C (PEX1)
XR_927494.1:n.1109T>G (GATAD1)
XR_927496.1:n.1114T>G (GATAD1)
XR_927497.1:n.1166T>G (GATAD1)
XR_927498.1:n.1197T>G (GATAD1)
XR_927500.1:n.1106T>G (GATAD1)
XR_927503.1:n.1040T>G (GATAD1)
XM_017012319.2:c.1645A>C (PEX1)	XP_016867808.1:p.Ser549Arg
XR_001744808.2:n.2421A>C (PEX1)
XR_001744842.2:n.2354T>G (GATAD1)
XR_001744843.2:n.2285T>G (GATAD1)
XR_002956472.1:n.2411T>G (GATAD1)
XR_002956473.1:n.2442T>G (GATAD1)
XR_002956474.1:n.2359T>G (GATAD1)
XR_242246.5:n.3441A>C (PEX1)
XR_927494.3:n.1136T>G (GATAD1)
XR_927500.3:n.1133T>G (GATAD1)
XR_927503.3:n.1067T>G (GATAD1)
NM_000466.3:c.3394A>C (PEX1) MANE Select	NP_000457.1:p.Ser1132Arg
NM_001282677.2:c.3223A>C (PEX1)	NP_001269606.1:p.Ser1075Arg
NM_001282678.2:c.2770A>C (PEX1)	NP_001269607.1:p.Ser924Arg