Canonical Allele Identifier: CA843845823

Gene: PEX1 GATAD1

Linked Data

• dbSNP Id: rs577659104
• gnomAD v4: 7-92493969-G-C
• MyVariant Identifiers: chr7:g.92123283G>C (hg19) ; chr7:g.92493969G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92493969G>C , CM000669.2:g.92493969G>C	GRCh38
NC_000007.13:g.92123283G>C , CM000669.1:g.92123283G>C	GRCh37
NC_000007.12:g.91961219G>C	NCBI36
NG_008341.1:g.39563C>G
NG_008341.2:g.39563C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.3030+324C>G (PEX1) MANE Select	ENSP00000248633.4:n.3030+324C>G
ENST00000248633.8:c.3030+324C>G (PEX1)	ENSP00000248633.4:n.3030+324C>G
ENST00000428214.5:c.2859+324C>G (PEX1)	ENSP00000394413.1:n.2859+324C>G
ENST00000438045.5:c.2064+324C>G (PEX1)	ENSP00000410438.1:n.2064+324C>G
ENST00000484913.5:n.3069+324C>G (PEX1)
ENST00000496420.5:n.3246C>G (PEX1)
NM_000466.2:c.3030+324C>G (PEX1)	NP_000457.1:n.3030+324C>G
NM_001282677.1:c.2859+324C>G (PEX1)	NP_001269606.1:n.2859+324C>G
NM_001282678.1:c.2406+324C>G (PEX1)	NP_001269607.1:n.2406+324C>G
XM_005250433.3:c.1281+324C>G (PEX1)	XP_005250490.1:n.1281+324C>G
XR_242246.3:n.3126+324C>G (PEX1)
XM_017012319.2:c.1281+324C>G (PEX1)	XP_016867808.1:n.1281+324C>G
XR_001744808.2:n.2057+324C>G (PEX1)
XR_001744843.2:n.4938G>C (GATAD1)
XR_242246.5:n.3077+324C>G (PEX1)
XR_927494.3:n.3789G>C (GATAD1)
XR_927503.3:n.3720G>C (GATAD1)
NM_000466.3:c.3030+324C>G (PEX1) MANE Select	NP_000457.1:n.3030+324C>G
NM_001282677.2:c.2859+324C>G (PEX1)	NP_001269606.1:n.2859+324C>G
NM_001282678.2:c.2406+324C>G (PEX1)	NP_001269607.1:n.2406+324C>G