Canonical Allele Identifier: CA368163895

Gene: PEX1 GATAD1

Linked Data

• MyVariant Identifiers: chr7:g.92120678T>C (hg19) ; chr7:g.92491364T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92491364T>C , CM000669.2:g.92491364T>C	GRCh38
NC_000007.13:g.92120678T>C , CM000669.1:g.92120678T>C	GRCh37
NC_000007.12:g.91958614T>C	NCBI36
NG_008341.1:g.42168A>G
NG_008341.2:g.42168A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.3346A>G (PEX1) MANE Select	ENSP00000248633.4:p.Ile1116Val
ENST00000248633.8:c.3346A>G (PEX1)	ENSP00000248633.4:p.Ile1116Val
ENST00000428214.5:c.3175A>G (PEX1)	ENSP00000394413.1:p.Ile1059Val
ENST00000438045.5:c.2380A>G (PEX1)	ENSP00000410438.1:p.Ile794Val
ENST00000484913.5:n.3385A>G (PEX1)
ENST00000496420.5:n.4401A>G (PEX1)
NM_000466.2:c.3346A>G (PEX1)	NP_000457.1:p.Ile1116Val
NM_001282677.1:c.3175A>G (PEX1)	NP_001269606.1:p.Ile1059Val
NM_001282678.1:c.2722A>G (PEX1)	NP_001269607.1:p.Ile908Val
XM_005250433.3:c.1597A>G (PEX1)	XP_005250490.1:p.Ile533Val
XR_242246.3:n.3442A>G (PEX1)
XM_017012319.2:c.1597A>G (PEX1)	XP_016867808.1:p.Ile533Val
XR_001744808.2:n.2373A>G (PEX1)
XR_001744842.2:n.2402T>C (GATAD1)
XR_001744843.2:n.2333T>C (GATAD1)
XR_002956472.1:n.2459T>C (GATAD1)
XR_002956473.1:n.2490T>C (GATAD1)
XR_002956474.1:n.2407T>C (GATAD1)
XR_242246.5:n.3393A>G (PEX1)
XR_927494.3:n.1184T>C (GATAD1)
XR_927500.3:n.1181T>C (GATAD1)
XR_927503.3:n.1115T>C (GATAD1)
NM_000466.3:c.3346A>G (PEX1) MANE Select	NP_000457.1:p.Ile1116Val
NM_001282677.2:c.3175A>G (PEX1)	NP_001269606.1:p.Ile1059Val
NM_001282678.2:c.2722A>G (PEX1)	NP_001269607.1:p.Ile908Val