Canonical Allele Identifier: CA576706668

Gene: PEX1 GATAD1

Linked Data

• dbSNP Id: rs1488983529
• gnomAD v2: 7-92123564-G-A
• gnomAD v3: 7-92494250-G-A
• gnomAD v4: 7-92494250-G-A
• MyVariant Identifiers: chr7:g.92123564G>A (hg19) ; chr7:g.92494250G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92494250G>A , CM000669.2:g.92494250G>A	GRCh38
NC_000007.13:g.92123564G>A , CM000669.1:g.92123564G>A	GRCh37
NC_000007.12:g.91961500G>A	NCBI36
NG_008341.1:g.39282C>T
NG_008341.2:g.39282C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.3030+43C>T (PEX1) MANE Select	ENSP00000248633.4:n.3030+43C>T
ENST00000248633.8:c.3030+43C>T (PEX1)	ENSP00000248633.4:n.3030+43C>T
ENST00000428214.5:c.2859+43C>T (PEX1)	ENSP00000394413.1:n.2859+43C>T
ENST00000438045.5:c.2064+43C>T (PEX1)	ENSP00000410438.1:n.2064+43C>T
ENST00000484913.5:n.3069+43C>T (PEX1)
ENST00000496420.5:n.2965C>T (PEX1)
NM_000466.2:c.3030+43C>T (PEX1)	NP_000457.1:n.3030+43C>T
NM_001282677.1:c.2859+43C>T (PEX1)	NP_001269606.1:n.2859+43C>T
NM_001282678.1:c.2406+43C>T (PEX1)	NP_001269607.1:n.2406+43C>T
XM_005250433.3:c.1281+43C>T (PEX1)	XP_005250490.1:n.1281+43C>T
XR_242246.3:n.3126+43C>T (PEX1)
XM_017012319.2:c.1281+43C>T (PEX1)	XP_016867808.1:n.1281+43C>T
XR_001744808.2:n.2057+43C>T (PEX1)
XR_001744843.2:n.5219G>A (GATAD1)
XR_242246.5:n.3077+43C>T (PEX1)
XR_927494.3:n.4070G>A (GATAD1)
XR_927503.3:n.4001G>A (GATAD1)
NM_000466.3:c.3030+43C>T (PEX1) MANE Select	NP_000457.1:n.3030+43C>T
NM_001282677.2:c.2859+43C>T (PEX1)	NP_001269606.1:n.2859+43C>T
NM_001282678.2:c.2406+43C>T (PEX1)	NP_001269607.1:n.2406+43C>T