Canonical Allele Identifier: CA2683717880

Gene: PEX1 GATAD1

Linked Data

• gnomAD v4: 7-92494149-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92494149A>C , CM000669.2:g.92494149A>C	GRCh38
NC_000007.13:g.92123463A>C , CM000669.1:g.92123463A>C	GRCh37
NC_000007.12:g.91961399A>C	NCBI36
NG_008341.1:g.39383T>G
NG_008341.2:g.39383T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.3030+144T>G (PEX1) MANE Select	ENSP00000248633.4:n.3030+144T>G
ENST00000248633.8:c.3030+144T>G (PEX1)	ENSP00000248633.4:n.3030+144T>G
ENST00000428214.5:c.2859+144T>G (PEX1)	ENSP00000394413.1:n.2859+144T>G
ENST00000438045.5:c.2064+144T>G (PEX1)	ENSP00000410438.1:n.2064+144T>G
ENST00000484913.5:n.3069+144T>G (PEX1)
ENST00000496420.5:n.3066T>G (PEX1)
NM_000466.2:c.3030+144T>G (PEX1)	NP_000457.1:n.3030+144T>G
NM_001282677.1:c.2859+144T>G (PEX1)	NP_001269606.1:n.2859+144T>G
NM_001282678.1:c.2406+144T>G (PEX1)	NP_001269607.1:n.2406+144T>G
XM_005250433.3:c.1281+144T>G (PEX1)	XP_005250490.1:n.1281+144T>G
XR_242246.3:n.3126+144T>G (PEX1)
XM_017012319.2:c.1281+144T>G (PEX1)	XP_016867808.1:n.1281+144T>G
XR_001744808.2:n.2057+144T>G (PEX1)
XR_001744843.2:n.5118A>C (GATAD1)
XR_242246.5:n.3077+144T>G (PEX1)
XR_927494.3:n.3969A>C (GATAD1)
XR_927503.3:n.3900A>C (GATAD1)
NM_000466.3:c.3030+144T>G (PEX1) MANE Select	NP_000457.1:n.3030+144T>G
NM_001282677.2:c.2859+144T>G (PEX1)	NP_001269606.1:n.2859+144T>G
NM_001282678.2:c.2406+144T>G (PEX1)	NP_001269607.1:n.2406+144T>G