Canonical Allele Identifier: CA368164166

Gene: PEX1 GATAD1

Linked Data

• MyVariant Identifiers: chr7:g.92120722T>C (hg19) ; chr7:g.92491408T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92491408T>C , CM000669.2:g.92491408T>C	GRCh38
NC_000007.13:g.92120722T>C , CM000669.1:g.92120722T>C	GRCh37
NC_000007.12:g.91958658T>C	NCBI36
NG_008341.1:g.42124A>G
NG_008341.2:g.42124A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.3302A>G (PEX1) MANE Select	ENSP00000248633.4:p.Glu1101Gly
ENST00000248633.8:c.3302A>G (PEX1)	ENSP00000248633.4:p.Glu1101Gly
ENST00000428214.5:c.3131A>G (PEX1)	ENSP00000394413.1:p.Glu1044Gly
ENST00000438045.5:c.2336A>G (PEX1)	ENSP00000410438.1:p.Glu779Gly
ENST00000484913.5:n.3341A>G (PEX1)
ENST00000496420.5:n.4357A>G (PEX1)
NM_000466.2:c.3302A>G (PEX1)	NP_000457.1:p.Glu1101Gly
NM_001282677.1:c.3131A>G (PEX1)	NP_001269606.1:p.Glu1044Gly
NM_001282678.1:c.2678A>G (PEX1)	NP_001269607.1:p.Glu893Gly
XM_005250433.3:c.1553A>G (PEX1)	XP_005250490.1:p.Glu518Gly
XR_242246.3:n.3398A>G (PEX1)
XM_017012319.2:c.1553A>G (PEX1)	XP_016867808.1:p.Glu518Gly
XR_001744808.2:n.2329A>G (PEX1)
XR_001744842.2:n.2446T>C (GATAD1)
XR_001744843.2:n.2377T>C (GATAD1)
XR_002956472.1:n.2503T>C (GATAD1)
XR_002956473.1:n.2534T>C (GATAD1)
XR_002956474.1:n.2451T>C (GATAD1)
XR_242246.5:n.3349A>G (PEX1)
XR_927494.3:n.1228T>C (GATAD1)
XR_927500.3:n.1225T>C (GATAD1)
XR_927503.3:n.1159T>C (GATAD1)
NM_000466.3:c.3302A>G (PEX1) MANE Select	NP_000457.1:p.Glu1101Gly
NM_001282677.2:c.3131A>G (PEX1)	NP_001269606.1:p.Glu1044Gly
NM_001282678.2:c.2678A>G (PEX1)	NP_001269607.1:p.Glu893Gly