Canonical Allele Identifier: CA368167349

Gene: PEX1 GATAD1

Linked Data

• MyVariant Identifiers: chr7:g.92123631A>C (hg19) ; chr7:g.92494317A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92494317A>C , CM000669.2:g.92494317A>C	GRCh38
NC_000007.13:g.92123631A>C , CM000669.1:g.92123631A>C	GRCh37
NC_000007.12:g.91961567A>C	NCBI36
NG_008341.1:g.39215T>G
NG_008341.2:g.39215T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.3006T>G (PEX1) MANE Select	ENSP00000248633.4:p.Cys1002Trp
ENST00000248633.8:c.3006T>G (PEX1)	ENSP00000248633.4:p.Cys1002Trp
ENST00000428214.5:c.2835T>G (PEX1)	ENSP00000394413.1:p.Cys945Trp
ENST00000438045.5:c.2040T>G (PEX1)	ENSP00000410438.1:p.Cys680Trp
ENST00000484913.5:n.3045T>G (PEX1)
ENST00000496420.5:n.2898T>G (PEX1)
NM_000466.2:c.3006T>G (PEX1)	NP_000457.1:p.Cys1002Trp
NM_001282677.1:c.2835T>G (PEX1)	NP_001269606.1:p.Cys945Trp
NM_001282678.1:c.2382T>G (PEX1)	NP_001269607.1:p.Cys794Trp
XM_005250433.3:c.1257T>G (PEX1)	XP_005250490.1:p.Cys419Trp
XR_242246.3:n.3102T>G (PEX1)
XM_017012319.2:c.1257T>G (PEX1)	XP_016867808.1:p.Cys419Trp
XR_001744808.2:n.2033T>G (PEX1)
XR_001744843.2:n.5286A>C (GATAD1)
XR_242246.5:n.3053T>G (PEX1)
XR_927494.3:n.4137A>C (GATAD1)
XR_927503.3:n.4068A>C (GATAD1)
NM_000466.3:c.3006T>G (PEX1) MANE Select	NP_000457.1:p.Cys1002Trp
NM_001282677.2:c.2835T>G (PEX1)	NP_001269606.1:p.Cys945Trp
NM_001282678.2:c.2382T>G (PEX1)	NP_001269607.1:p.Cys794Trp