Canonical Allele Identifier: CA161955427

Gene: PEX1 GATAD1

Linked Data

• dbSNP Id: rs749121450
• gnomAD v3: 7-92494318-C-T
• gnomAD v4: 7-92494318-C-T
• MyVariant Identifiers: chr7:g.92123632C>T (hg19) ; chr7:g.92494318C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92494318C>T , CM000669.2:g.92494318C>T	GRCh38
NC_000007.13:g.92123632C>T , CM000669.1:g.92123632C>T	GRCh37
NC_000007.12:g.91961568C>T	NCBI36
NG_008341.1:g.39214G>A
NG_008341.2:g.39214G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.3005G>A (PEX1) MANE Select	ENSP00000248633.4:p.Cys1002Tyr
ENST00000248633.8:c.3005G>A (PEX1)	ENSP00000248633.4:p.Cys1002Tyr
ENST00000428214.5:c.2834G>A (PEX1)	ENSP00000394413.1:p.Cys945Tyr
ENST00000438045.5:c.2039G>A (PEX1)	ENSP00000410438.1:p.Cys680Tyr
ENST00000484913.5:n.3044G>A (PEX1)
ENST00000496420.5:n.2897G>A (PEX1)
NM_000466.2:c.3005G>A (PEX1)	NP_000457.1:p.Cys1002Tyr
NM_001282677.1:c.2834G>A (PEX1)	NP_001269606.1:p.Cys945Tyr
NM_001282678.1:c.2381G>A (PEX1)	NP_001269607.1:p.Cys794Tyr
XM_005250433.3:c.1256G>A (PEX1)	XP_005250490.1:p.Cys419Tyr
XR_242246.3:n.3101G>A (PEX1)
XM_017012319.2:c.1256G>A (PEX1)	XP_016867808.1:p.Cys419Tyr
XR_001744808.2:n.2032G>A (PEX1)
XR_001744843.2:n.5287C>T (GATAD1)
XR_242246.5:n.3052G>A (PEX1)
XR_927494.3:n.4138C>T (GATAD1)
XR_927503.3:n.4069C>T (GATAD1)
NM_000466.3:c.3005G>A (PEX1) MANE Select	NP_000457.1:p.Cys1002Tyr
NM_001282677.2:c.2834G>A (PEX1)	NP_001269606.1:p.Cys945Tyr
NM_001282678.2:c.2381G>A (PEX1)	NP_001269607.1:p.Cys794Tyr