Canonical Allele Identifier: CA843845844

Gene: PEX1 GATAD1

Linked Data

• dbSNP Id: rs1283048888
• gnomAD v4: 7-92494044-T-G
• MyVariant Identifiers: chr7:g.92123358T>G (hg19) ; chr7:g.92494044T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92494044T>G , CM000669.2:g.92494044T>G	GRCh38
NC_000007.13:g.92123358T>G , CM000669.1:g.92123358T>G	GRCh37
NC_000007.12:g.91961294T>G	NCBI36
NG_008341.1:g.39488A>C
NG_008341.2:g.39488A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.3030+249A>C (PEX1) MANE Select	ENSP00000248633.4:n.3030+249A>C
ENST00000248633.8:c.3030+249A>C (PEX1)	ENSP00000248633.4:n.3030+249A>C
ENST00000428214.5:c.2859+249A>C (PEX1)	ENSP00000394413.1:n.2859+249A>C
ENST00000438045.5:c.2064+249A>C (PEX1)	ENSP00000410438.1:n.2064+249A>C
ENST00000484913.5:n.3069+249A>C (PEX1)
ENST00000496420.5:n.3171A>C (PEX1)
NM_000466.2:c.3030+249A>C (PEX1)	NP_000457.1:n.3030+249A>C
NM_001282677.1:c.2859+249A>C (PEX1)	NP_001269606.1:n.2859+249A>C
NM_001282678.1:c.2406+249A>C (PEX1)	NP_001269607.1:n.2406+249A>C
XM_005250433.3:c.1281+249A>C (PEX1)	XP_005250490.1:n.1281+249A>C
XR_242246.3:n.3126+249A>C (PEX1)
XM_017012319.2:c.1281+249A>C (PEX1)	XP_016867808.1:n.1281+249A>C
XR_001744808.2:n.2057+249A>C (PEX1)
XR_001744843.2:n.5013T>G (GATAD1)
XR_242246.5:n.3077+249A>C (PEX1)
XR_927494.3:n.3864T>G (GATAD1)
XR_927503.3:n.3795T>G (GATAD1)
NM_000466.3:c.3030+249A>C (PEX1) MANE Select	NP_000457.1:n.3030+249A>C
NM_001282677.2:c.2859+249A>C (PEX1)	NP_001269606.1:n.2859+249A>C
NM_001282678.2:c.2406+249A>C (PEX1)	NP_001269607.1:n.2406+249A>C