Canonical Allele Identifier: CA368161045

Gene: PEX1 GATAD1

Linked Data

• MyVariant Identifiers: chr7:g.92119064G>C (hg19) ; chr7:g.92489750G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92489750G>C , CM000669.2:g.92489750G>C	GRCh38
NC_000007.13:g.92119064G>C , CM000669.1:g.92119064G>C	GRCh37
NC_000007.12:g.91957000G>C	NCBI36
NG_008341.1:g.43782C>G
NG_008341.2:g.43782C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.3600C>G (PEX1) MANE Select	ENSP00000248633.4:p.Ile1200Met
ENST00000248633.8:c.3600C>G (PEX1)	ENSP00000248633.4:p.Ile1200Met
ENST00000428214.5:c.3429C>G (PEX1)	ENSP00000394413.1:p.Ile1143Met
ENST00000438045.5:c.2634C>G (PEX1)	ENSP00000410438.1:p.Ile878Met
ENST00000469417.1:n.497C>G (PEX1)
ENST00000477342.1:n.45C>G (PEX1)
ENST00000484913.5:n.3639C>G (PEX1)
ENST00000496420.5:n.4655C>G (PEX1)
NM_000466.2:c.3600C>G (PEX1)	NP_000457.1:p.Ile1200Met
NM_001282677.1:c.3429C>G (PEX1)	NP_001269606.1:p.Ile1143Met
NM_001282678.1:c.2976C>G (PEX1)	NP_001269607.1:p.Ile992Met
XM_005250433.3:c.1851C>G (PEX1)	XP_005250490.1:p.Ile617Met
XR_242246.3:n.3696C>G (PEX1)
XR_927494.1:n.1036-1493G>C (GATAD1)
XR_927495.1:n.1036-336G>C (GATAD1)
XR_927496.1:n.1041-1493G>C (GATAD1)
XR_927497.1:n.1036-336G>C (GATAD1)
XR_927498.1:n.1124-1493G>C (GATAD1)
XR_927500.1:n.1033-1493G>C (GATAD1)
XR_927502.1:n.1033-336G>C (GATAD1)
XR_927503.1:n.967-1493G>C (GATAD1)
XM_017012319.2:c.1851C>G (PEX1)	XP_016867808.1:p.Ile617Met
XR_001744808.2:n.2627C>G (PEX1)
XR_001744842.2:n.2281-1493G>C (GATAD1)
XR_001744843.2:n.2212-1493G>C (GATAD1)
XR_002956472.1:n.2281-336G>C (GATAD1)
XR_002956473.1:n.2369-1493G>C (GATAD1)
XR_002956474.1:n.2286-1493G>C (GATAD1)
XR_242246.5:n.3647C>G (PEX1)
XR_927494.3:n.1063-1493G>C (GATAD1)
XR_927500.3:n.1060-1493G>C (GATAD1)
XR_927503.3:n.994-1493G>C (GATAD1)
NM_000466.3:c.3600C>G (PEX1) MANE Select	NP_000457.1:p.Ile1200Met
NM_001282677.2:c.3429C>G (PEX1)	NP_001269606.1:p.Ile1143Met
NM_001282678.2:c.2976C>G (PEX1)	NP_001269607.1:p.Ile992Met