Canonical Allele Identifier: CA456624311

Gene: PEX1 GATAD1

Linked Data

• dbSNP Id: rs1585214695
• gnomAD v4: 7-92491473-T-G
• MyVariant Identifiers: chr7:g.92120787T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92491473T>G , CM000669.2:g.92491473T>G	GRCh38
NC_000007.13:g.92120787T>G , CM000669.1:g.92120787T>G	GRCh37
NC_000007.12:g.91958723T>G	NCBI36
NG_008341.1:g.42059A>C
NG_008341.2:g.42059A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.3237A>C (PEX1) MANE Select	ENSP00000248633.4:p.Leu1079=
ENST00000248633.8:c.3237A>C (PEX1)	ENSP00000248633.4:p.Leu1079=
ENST00000428214.5:c.3066A>C (PEX1)	ENSP00000394413.1:p.Leu1022=
ENST00000438045.5:c.2271A>C (PEX1)	ENSP00000410438.1:p.Leu757=
ENST00000484913.5:n.3276A>C (PEX1)
ENST00000496420.5:n.4292A>C (PEX1)
NM_000466.2:c.3237A>C (PEX1)	NP_000457.1:p.Leu1079=
NM_001282677.1:c.3066A>C (PEX1)	NP_001269606.1:p.Leu1022=
NM_001282678.1:c.2613A>C (PEX1)	NP_001269607.1:p.Leu871=
XM_005250433.3:c.1488A>C (PEX1)	XP_005250490.1:p.Leu496=
XR_242246.3:n.3333A>C (PEX1)
XM_017012319.2:c.1488A>C (PEX1)	XP_016867808.1:p.Leu496=
XR_001744808.2:n.2264A>C (PEX1)
XR_001744842.2:n.2511T>G (GATAD1)
XR_001744843.2:n.2442T>G (GATAD1)
XR_002956472.1:n.2568T>G (GATAD1)
XR_002956473.1:n.2599T>G (GATAD1)
XR_002956474.1:n.2516T>G (GATAD1)
XR_242246.5:n.3284A>C (PEX1)
XR_927494.3:n.1293T>G (GATAD1)
XR_927500.3:n.1290T>G (GATAD1)
XR_927503.3:n.1224T>G (GATAD1)
NM_000466.3:c.3237A>C (PEX1) MANE Select	NP_000457.1:p.Leu1079=
NM_001282677.2:c.3066A>C (PEX1)	NP_001269606.1:p.Leu1022=
NM_001282678.2:c.2613A>C (PEX1)	NP_001269607.1:p.Leu871=