Canonical Allele Identifier: CA368168471

Gene: PEX1 GATAD1

Linked Data

• MyVariant Identifiers: chr7:g.92123842T>G (hg19) ; chr7:g.92494528T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92494528T>G , CM000669.2:g.92494528T>G	GRCh38
NC_000007.13:g.92123842T>G , CM000669.1:g.92123842T>G	GRCh37
NC_000007.12:g.91961778T>G	NCBI36
NG_008341.1:g.39004A>C
NG_008341.2:g.39004A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.2885A>C (PEX1) MANE Select	ENSP00000248633.4:p.Asn962Thr
ENST00000248633.8:c.2885A>C (PEX1)	ENSP00000248633.4:p.Asn962Thr
ENST00000428214.5:c.2714A>C (PEX1)	ENSP00000394413.1:p.Asn905Thr
ENST00000438045.5:c.1919A>C (PEX1)	ENSP00000410438.1:p.Asn640Thr
ENST00000484913.5:n.2924A>C (PEX1)
ENST00000496420.5:n.2777A>C (PEX1)
NM_000466.2:c.2885A>C (PEX1)	NP_000457.1:p.Asn962Thr
NM_001282677.1:c.2714A>C (PEX1)	NP_001269606.1:p.Asn905Thr
NM_001282678.1:c.2261A>C (PEX1)	NP_001269607.1:p.Asn754Thr
XM_005250433.3:c.1136A>C (PEX1)	XP_005250490.1:p.Asn379Thr
XR_242246.3:n.2981A>C (PEX1)
XM_017012319.2:c.1136A>C (PEX1)	XP_016867808.1:p.Asn379Thr
XR_001744808.2:n.1912A>C (PEX1)
XR_001744843.2:n.5497T>G (GATAD1)
XR_242246.5:n.2932A>C (PEX1)
XR_927494.3:n.4348T>G (GATAD1)
XR_927503.3:n.4279T>G (GATAD1)
NM_000466.3:c.2885A>C (PEX1) MANE Select	NP_000457.1:p.Asn962Thr
NM_001282677.2:c.2714A>C (PEX1)	NP_001269606.1:p.Asn905Thr
NM_001282678.2:c.2261A>C (PEX1)	NP_001269607.1:p.Asn754Thr