Canonical Allele Identifier: CA368168569

Gene: PEX1 GATAD1

Linked Data

• dbSNP Id: rs1791550788
• gnomAD v4: 7-92494553-T-C
• MyVariant Identifiers: chr7:g.92123867T>C (hg19) ; chr7:g.92494553T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92494553T>C , CM000669.2:g.92494553T>C	GRCh38
NC_000007.13:g.92123867T>C , CM000669.1:g.92123867T>C	GRCh37
NC_000007.12:g.91961803T>C	NCBI36
NG_008341.1:g.38979A>G
NG_008341.2:g.38979A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2860A>G (PEX1) MANE Select	ENSP00000248633.4:p.Thr954Ala
ENST00000248633.8:c.2860A>G (PEX1)	ENSP00000248633.4:p.Thr954Ala
ENST00000428214.5:c.2689A>G (PEX1)	ENSP00000394413.1:p.Thr897Ala
ENST00000438045.5:c.1894A>G (PEX1)	ENSP00000410438.1:p.Thr632Ala
ENST00000484913.5:n.2899A>G (PEX1)
ENST00000496420.5:n.2752A>G (PEX1)
NM_000466.2:c.2860A>G (PEX1)	NP_000457.1:p.Thr954Ala
NM_001282677.1:c.2689A>G (PEX1)	NP_001269606.1:p.Thr897Ala
NM_001282678.1:c.2236A>G (PEX1)	NP_001269607.1:p.Thr746Ala
XM_005250433.3:c.1111A>G (PEX1)	XP_005250490.1:p.Thr371Ala
XR_242246.3:n.2956A>G (PEX1)
XM_017012319.2:c.1111A>G (PEX1)	XP_016867808.1:p.Thr371Ala
XR_001744808.2:n.1887A>G (PEX1)
XR_001744843.2:n.5522T>C (GATAD1)
XR_242246.5:n.2907A>G (PEX1)
XR_927494.3:n.4373T>C (GATAD1)
XR_927503.3:n.4304T>C (GATAD1)
NM_000466.3:c.2860A>G (PEX1) MANE Select	NP_000457.1:p.Thr954Ala
NM_001282677.2:c.2689A>G (PEX1)	NP_001269606.1:p.Thr897Ala
NM_001282678.2:c.2236A>G (PEX1)	NP_001269607.1:p.Thr746Ala