Canonical Allele Identifier: CA4340869

Gene: PEX1 GATAD1

Linked Data

• dbSNP Id: rs771643382
• ExAC: 7:92120811 T / G
• gnomAD v2: 7-92120811-T-G
• MyVariant Identifiers: chr7:g.92120811T>G (hg19) ; chr7:g.92491497T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92491497T>G , CM000669.2:g.92491497T>G	GRCh38
NC_000007.13:g.92120811T>G , CM000669.1:g.92120811T>G	GRCh37
NC_000007.12:g.91958747T>G	NCBI36
NG_008341.1:g.42035A>C
NG_008341.2:g.42035A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.3213A>C (PEX1) MANE Select	ENSP00000248633.4:p.Gly1071=
ENST00000248633.8:c.3213A>C (PEX1)	ENSP00000248633.4:p.Gly1071=
ENST00000428214.5:c.3042A>C (PEX1)	ENSP00000394413.1:p.Gly1014=
ENST00000438045.5:c.2247A>C (PEX1)	ENSP00000410438.1:p.Gly749=
ENST00000484913.5:n.3252A>C (PEX1)
ENST00000496420.5:n.4268A>C (PEX1)
NM_000466.2:c.3213A>C (PEX1)	NP_000457.1:p.Gly1071=
NM_001282677.1:c.3042A>C (PEX1)	NP_001269606.1:p.Gly1014=
NM_001282678.1:c.2589A>C (PEX1)	NP_001269607.1:p.Gly863=
XM_005250433.3:c.1464A>C (PEX1)	XP_005250490.1:p.Gly488=
XR_242246.3:n.3309A>C (PEX1)
XM_017012319.2:c.1464A>C (PEX1)	XP_016867808.1:p.Gly488=
XR_001744808.2:n.2240A>C (PEX1)
XR_001744842.2:n.2535T>G (GATAD1)
XR_001744843.2:n.2466T>G (GATAD1)
XR_002956472.1:n.2592T>G (GATAD1)
XR_002956473.1:n.2623T>G (GATAD1)
XR_002956474.1:n.2540T>G (GATAD1)
XR_242246.5:n.3260A>C (PEX1)
XR_927494.3:n.1317T>G (GATAD1)
XR_927500.3:n.1314T>G (GATAD1)
XR_927503.3:n.1248T>G (GATAD1)
NM_000466.3:c.3213A>C (PEX1) MANE Select	NP_000457.1:p.Gly1071=
NM_001282677.2:c.3042A>C (PEX1)	NP_001269606.1:p.Gly1014=
NM_001282678.2:c.2589A>C (PEX1)	NP_001269607.1:p.Gly863=