Canonical Allele Identifier: CA161955686

Gene: PEX1 GATAD1

Linked Data

• dbSNP Id: rs933191144
• gnomAD v2: 7-92123825-A-C
• gnomAD v3: 7-92494511-A-C
• gnomAD v4: 7-92494511-A-C
• COSMIC: COSM4162502
• MyVariant Identifiers: chr7:g.92123825A>C (hg19) ; chr7:g.92494511A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92494511A>C , CM000669.2:g.92494511A>C	GRCh38
NC_000007.13:g.92123825A>C , CM000669.1:g.92123825A>C	GRCh37
NC_000007.12:g.91961761A>C	NCBI36
NG_008341.1:g.39021T>G
NG_008341.2:g.39021T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2902T>G (PEX1) MANE Select	ENSP00000248633.4:p.Leu968Val
ENST00000248633.8:c.2902T>G (PEX1)	ENSP00000248633.4:p.Leu968Val
ENST00000428214.5:c.2731T>G (PEX1)	ENSP00000394413.1:p.Leu911Val
ENST00000438045.5:c.1936T>G (PEX1)	ENSP00000410438.1:p.Leu646Val
ENST00000484913.5:n.2941T>G (PEX1)
ENST00000496420.5:n.2794T>G (PEX1)
NM_000466.2:c.2902T>G (PEX1)	NP_000457.1:p.Leu968Val
NM_001282677.1:c.2731T>G (PEX1)	NP_001269606.1:p.Leu911Val
NM_001282678.1:c.2278T>G (PEX1)	NP_001269607.1:p.Leu760Val
XM_005250433.3:c.1153T>G (PEX1)	XP_005250490.1:p.Leu385Val
XR_242246.3:n.2998T>G (PEX1)
XM_017012319.2:c.1153T>G (PEX1)	XP_016867808.1:p.Leu385Val
XR_001744808.2:n.1929T>G (PEX1)
XR_001744843.2:n.5480A>C (GATAD1)
XR_242246.5:n.2949T>G (PEX1)
XR_927494.3:n.4331A>C (GATAD1)
XR_927503.3:n.4262A>C (GATAD1)
NM_000466.3:c.2902T>G (PEX1) MANE Select	NP_000457.1:p.Leu968Val
NM_001282677.2:c.2731T>G (PEX1)	NP_001269606.1:p.Leu911Val
NM_001282678.2:c.2278T>G (PEX1)	NP_001269607.1:p.Leu760Val