Canonical Allele Identifier: CA2683717937

Gene: PEX1 GATAD1

Linked Data

• gnomAD v4: 7-92494240-A-T

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92494240A>T , CM000669.2:g.92494240A>T	GRCh38
NC_000007.13:g.92123554A>T , CM000669.1:g.92123554A>T	GRCh37
NC_000007.12:g.91961490A>T	NCBI36
NG_008341.1:g.39292T>A
NG_008341.2:g.39292T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.3030+53T>A (PEX1) MANE Select	ENSP00000248633.4:n.3030+53T>A
ENST00000248633.8:c.3030+53T>A (PEX1)	ENSP00000248633.4:n.3030+53T>A
ENST00000428214.5:c.2859+53T>A (PEX1)	ENSP00000394413.1:n.2859+53T>A
ENST00000438045.5:c.2064+53T>A (PEX1)	ENSP00000410438.1:n.2064+53T>A
ENST00000484913.5:n.3069+53T>A (PEX1)
ENST00000496420.5:n.2975T>A (PEX1)
NM_000466.2:c.3030+53T>A (PEX1)	NP_000457.1:n.3030+53T>A
NM_001282677.1:c.2859+53T>A (PEX1)	NP_001269606.1:n.2859+53T>A
NM_001282678.1:c.2406+53T>A (PEX1)	NP_001269607.1:n.2406+53T>A
XM_005250433.3:c.1281+53T>A (PEX1)	XP_005250490.1:n.1281+53T>A
XR_242246.3:n.3126+53T>A (PEX1)
XM_017012319.2:c.1281+53T>A (PEX1)	XP_016867808.1:n.1281+53T>A
XR_001744808.2:n.2057+53T>A (PEX1)
XR_001744843.2:n.5209A>T (GATAD1)
XR_242246.5:n.3077+53T>A (PEX1)
XR_927494.3:n.4060A>T (GATAD1)
XR_927503.3:n.3991A>T (GATAD1)
NM_000466.3:c.3030+53T>A (PEX1) MANE Select	NP_000457.1:n.3030+53T>A
NM_001282677.2:c.2859+53T>A (PEX1)	NP_001269606.1:n.2859+53T>A
NM_001282678.2:c.2406+53T>A (PEX1)	NP_001269607.1:n.2406+53T>A