Canonical Allele Identifier: CA368164957

Gene: PEX1 GATAD1

Linked Data

• MyVariant Identifiers: chr7:g.92120808A>C (hg19) ; chr7:g.92491494A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92491494A>C , CM000669.2:g.92491494A>C	GRCh38
NC_000007.13:g.92120808A>C , CM000669.1:g.92120808A>C	GRCh37
NC_000007.12:g.91958744A>C	NCBI36
NG_008341.1:g.42038T>G
NG_008341.2:g.42038T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.3216T>G (PEX1) MANE Select	ENSP00000248633.4:p.Ser1072Arg
ENST00000248633.8:c.3216T>G (PEX1)	ENSP00000248633.4:p.Ser1072Arg
ENST00000428214.5:c.3045T>G (PEX1)	ENSP00000394413.1:p.Ser1015Arg
ENST00000438045.5:c.2250T>G (PEX1)	ENSP00000410438.1:p.Ser750Arg
ENST00000484913.5:n.3255T>G (PEX1)
ENST00000496420.5:n.4271T>G (PEX1)
NM_000466.2:c.3216T>G (PEX1)	NP_000457.1:p.Ser1072Arg
NM_001282677.1:c.3045T>G (PEX1)	NP_001269606.1:p.Ser1015Arg
NM_001282678.1:c.2592T>G (PEX1)	NP_001269607.1:p.Ser864Arg
XM_005250433.3:c.1467T>G (PEX1)	XP_005250490.1:p.Ser489Arg
XR_242246.3:n.3312T>G (PEX1)
XM_017012319.2:c.1467T>G (PEX1)	XP_016867808.1:p.Ser489Arg
XR_001744808.2:n.2243T>G (PEX1)
XR_001744842.2:n.2532A>C (GATAD1)
XR_001744843.2:n.2463A>C (GATAD1)
XR_002956472.1:n.2589A>C (GATAD1)
XR_002956473.1:n.2620A>C (GATAD1)
XR_002956474.1:n.2537A>C (GATAD1)
XR_242246.5:n.3263T>G (PEX1)
XR_927494.3:n.1314A>C (GATAD1)
XR_927500.3:n.1311A>C (GATAD1)
XR_927503.3:n.1245A>C (GATAD1)
NM_000466.3:c.3216T>G (PEX1) MANE Select	NP_000457.1:p.Ser1072Arg
NM_001282677.2:c.3045T>G (PEX1)	NP_001269606.1:p.Ser1015Arg
NM_001282678.2:c.2592T>G (PEX1)	NP_001269607.1:p.Ser864Arg