Canonical Allele Identifier: CA368167780

Gene: PEX1 GATAD1

Linked Data

• MyVariant Identifiers: chr7:g.92123693C>G (hg19) ; chr7:g.92494379C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92494379C>G , CM000669.2:g.92494379C>G	GRCh38
NC_000007.13:g.92123693C>G , CM000669.1:g.92123693C>G	GRCh37
NC_000007.12:g.91961629C>G	NCBI36
NG_008341.1:g.39153G>C
NG_008341.2:g.39153G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2944G>C (PEX1) MANE Select	ENSP00000248633.4:p.Ala982Pro
ENST00000248633.8:c.2944G>C (PEX1)	ENSP00000248633.4:p.Ala982Pro
ENST00000428214.5:c.2773G>C (PEX1)	ENSP00000394413.1:p.Ala925Pro
ENST00000438045.5:c.1978G>C (PEX1)	ENSP00000410438.1:p.Ala660Pro
ENST00000484913.5:n.2983G>C (PEX1)
ENST00000496420.5:n.2836G>C (PEX1)
NM_000466.2:c.2944G>C (PEX1)	NP_000457.1:p.Ala982Pro
NM_001282677.1:c.2773G>C (PEX1)	NP_001269606.1:p.Ala925Pro
NM_001282678.1:c.2320G>C (PEX1)	NP_001269607.1:p.Ala774Pro
XM_005250433.3:c.1195G>C (PEX1)	XP_005250490.1:p.Ala399Pro
XR_242246.3:n.3040G>C (PEX1)
XM_017012319.2:c.1195G>C (PEX1)	XP_016867808.1:p.Ala399Pro
XR_001744808.2:n.1971G>C (PEX1)
XR_001744843.2:n.5348C>G (GATAD1)
XR_242246.5:n.2991G>C (PEX1)
XR_927494.3:n.4199C>G (GATAD1)
XR_927503.3:n.4130C>G (GATAD1)
NM_000466.3:c.2944G>C (PEX1) MANE Select	NP_000457.1:p.Ala982Pro
NM_001282677.2:c.2773G>C (PEX1)	NP_001269606.1:p.Ala925Pro
NM_001282678.2:c.2320G>C (PEX1)	NP_001269607.1:p.Ala774Pro