Canonical Allele Identifier: CA368162083

Gene: PEX1 GATAD1

Linked Data

• dbSNP Id: rs1230559625
• gnomAD v2: 7-92119194-A-G
• gnomAD v4: 7-92489880-A-G
• MyVariant Identifiers: chr7:g.92119194A>G (hg19) ; chr7:g.92489880A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92489880A>G , CM000669.2:g.92489880A>G	GRCh38
NC_000007.13:g.92119194A>G , CM000669.1:g.92119194A>G	GRCh37
NC_000007.12:g.91957130A>G	NCBI36
NG_008341.1:g.43652T>C
NG_008341.2:g.43652T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.3470T>C (PEX1) MANE Select	ENSP00000248633.4:p.Met1157Thr
ENST00000248633.8:c.3470T>C (PEX1)	ENSP00000248633.4:p.Met1157Thr
ENST00000428214.5:c.3299T>C (PEX1)	ENSP00000394413.1:p.Met1100Thr
ENST00000438045.5:c.2504T>C (PEX1)	ENSP00000410438.1:p.Met835Thr
ENST00000469417.1:n.367T>C (PEX1)
ENST00000484913.5:n.3509T>C (PEX1)
ENST00000496420.5:n.4525T>C (PEX1)
NM_000466.2:c.3470T>C (PEX1)	NP_000457.1:p.Met1157Thr
NM_001282677.1:c.3299T>C (PEX1)	NP_001269606.1:p.Met1100Thr
NM_001282678.1:c.2846T>C (PEX1)	NP_001269607.1:p.Met949Thr
XM_005250433.3:c.1721T>C (PEX1)	XP_005250490.1:p.Met574Thr
XR_242246.3:n.3566T>C (PEX1)
XR_927494.1:n.1036-1363A>G (GATAD1)
XR_927495.1:n.1036-206A>G (GATAD1)
XR_927496.1:n.1041-1363A>G (GATAD1)
XR_927497.1:n.1036-206A>G (GATAD1)
XR_927498.1:n.1124-1363A>G (GATAD1)
XR_927500.1:n.1033-1363A>G (GATAD1)
XR_927502.1:n.1033-206A>G (GATAD1)
XR_927503.1:n.967-1363A>G (GATAD1)
XM_017012319.2:c.1721T>C (PEX1)	XP_016867808.1:p.Met574Thr
XR_001744808.2:n.2497T>C (PEX1)
XR_001744842.2:n.2281-1363A>G (GATAD1)
XR_001744843.2:n.2212-1363A>G (GATAD1)
XR_002956472.1:n.2281-206A>G (GATAD1)
XR_002956473.1:n.2369-1363A>G (GATAD1)
XR_002956474.1:n.2286-1363A>G (GATAD1)
XR_242246.5:n.3517T>C (PEX1)
XR_927494.3:n.1063-1363A>G (GATAD1)
XR_927500.3:n.1060-1363A>G (GATAD1)
XR_927503.3:n.994-1363A>G (GATAD1)
NM_000466.3:c.3470T>C (PEX1) MANE Select	NP_000457.1:p.Met1157Thr
NM_001282677.2:c.3299T>C (PEX1)	NP_001269606.1:p.Met1100Thr
NM_001282678.2:c.2846T>C (PEX1)	NP_001269607.1:p.Met949Thr