Canonical Allele Identifier: CA368164581

Gene: PEX1 GATAD1

Linked Data

• MyVariant Identifiers: chr7:g.92120766A>C (hg19) ; chr7:g.92491452A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92491452A>C , CM000669.2:g.92491452A>C	GRCh38
NC_000007.13:g.92120766A>C , CM000669.1:g.92120766A>C	GRCh37
NC_000007.12:g.91958702A>C	NCBI36
NG_008341.1:g.42080T>G
NG_008341.2:g.42080T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.3258T>G (PEX1) MANE Select	ENSP00000248633.4:p.Phe1086Leu
ENST00000248633.8:c.3258T>G (PEX1)	ENSP00000248633.4:p.Phe1086Leu
ENST00000428214.5:c.3087T>G (PEX1)	ENSP00000394413.1:p.Phe1029Leu
ENST00000438045.5:c.2292T>G (PEX1)	ENSP00000410438.1:p.Phe764Leu
ENST00000484913.5:n.3297T>G (PEX1)
ENST00000496420.5:n.4313T>G (PEX1)
NM_000466.2:c.3258T>G (PEX1)	NP_000457.1:p.Phe1086Leu
NM_001282677.1:c.3087T>G (PEX1)	NP_001269606.1:p.Phe1029Leu
NM_001282678.1:c.2634T>G (PEX1)	NP_001269607.1:p.Phe878Leu
XM_005250433.3:c.1509T>G (PEX1)	XP_005250490.1:p.Phe503Leu
XR_242246.3:n.3354T>G (PEX1)
XM_017012319.2:c.1509T>G (PEX1)	XP_016867808.1:p.Phe503Leu
XR_001744808.2:n.2285T>G (PEX1)
XR_001744842.2:n.2490A>C (GATAD1)
XR_001744843.2:n.2421A>C (GATAD1)
XR_002956472.1:n.2547A>C (GATAD1)
XR_002956473.1:n.2578A>C (GATAD1)
XR_002956474.1:n.2495A>C (GATAD1)
XR_242246.5:n.3305T>G (PEX1)
XR_927494.3:n.1272A>C (GATAD1)
XR_927500.3:n.1269A>C (GATAD1)
XR_927503.3:n.1203A>C (GATAD1)
NM_000466.3:c.3258T>G (PEX1) MANE Select	NP_000457.1:p.Phe1086Leu
NM_001282677.2:c.3087T>G (PEX1)	NP_001269606.1:p.Phe1029Leu
NM_001282678.2:c.2634T>G (PEX1)	NP_001269607.1:p.Phe878Leu