Canonical Allele Identifier: CA368168208

Gene: PEX1 GATAD1

Linked Data

• MyVariant Identifiers: chr7:g.92123813C>G (hg19) ; chr7:g.92494499C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92494499C>G , CM000669.2:g.92494499C>G	GRCh38
NC_000007.13:g.92123813C>G , CM000669.1:g.92123813C>G	GRCh37
NC_000007.12:g.91961749C>G	NCBI36
NG_008341.1:g.39033G>C
NG_008341.2:g.39033G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2914G>C (PEX1) MANE Select	ENSP00000248633.4:p.Glu972Gln
ENST00000248633.8:c.2914G>C (PEX1)	ENSP00000248633.4:p.Glu972Gln
ENST00000428214.5:c.2743G>C (PEX1)	ENSP00000394413.1:p.Glu915Gln
ENST00000438045.5:c.1948G>C (PEX1)	ENSP00000410438.1:p.Glu650Gln
ENST00000484913.5:n.2953G>C (PEX1)
ENST00000496420.5:n.2806G>C (PEX1)
NM_000466.2:c.2914G>C (PEX1)	NP_000457.1:p.Glu972Gln
NM_001282677.1:c.2743G>C (PEX1)	NP_001269606.1:p.Glu915Gln
NM_001282678.1:c.2290G>C (PEX1)	NP_001269607.1:p.Glu764Gln
XM_005250433.3:c.1165G>C (PEX1)	XP_005250490.1:p.Glu389Gln
XR_242246.3:n.3010G>C (PEX1)
XM_017012319.2:c.1165G>C (PEX1)	XP_016867808.1:p.Glu389Gln
XR_001744808.2:n.1941G>C (PEX1)
XR_001744843.2:n.5468C>G (GATAD1)
XR_242246.5:n.2961G>C (PEX1)
XR_927494.3:n.4319C>G (GATAD1)
XR_927503.3:n.4250C>G (GATAD1)
NM_000466.3:c.2914G>C (PEX1) MANE Select	NP_000457.1:p.Glu972Gln
NM_001282677.2:c.2743G>C (PEX1)	NP_001269606.1:p.Glu915Gln
NM_001282678.2:c.2290G>C (PEX1)	NP_001269607.1:p.Glu764Gln