Canonical Allele Identifier: CA1725930743

Gene: PEX1 GATAD1

Linked Data

• dbSNP Id: rs1562847564
• gnomAD v3: 7-92493980-G-C
• gnomAD v4: 7-92493980-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92493980G>C , CM000669.2:g.92493980G>C	GRCh38
NC_000007.13:g.92123294G>C , CM000669.1:g.92123294G>C	GRCh37
NC_000007.12:g.91961230G>C	NCBI36
NG_008341.1:g.39552C>G
NG_008341.2:g.39552C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.3030+313C>G (PEX1) MANE Select	ENSP00000248633.4:n.3030+313C>G
ENST00000248633.8:c.3030+313C>G (PEX1)	ENSP00000248633.4:n.3030+313C>G
ENST00000428214.5:c.2859+313C>G (PEX1)	ENSP00000394413.1:n.2859+313C>G
ENST00000438045.5:c.2064+313C>G (PEX1)	ENSP00000410438.1:n.2064+313C>G
ENST00000484913.5:n.3069+313C>G (PEX1)
ENST00000496420.5:n.3235C>G (PEX1)
NM_000466.2:c.3030+313C>G (PEX1)	NP_000457.1:n.3030+313C>G
NM_001282677.1:c.2859+313C>G (PEX1)	NP_001269606.1:n.2859+313C>G
NM_001282678.1:c.2406+313C>G (PEX1)	NP_001269607.1:n.2406+313C>G
XM_005250433.3:c.1281+313C>G (PEX1)	XP_005250490.1:n.1281+313C>G
XR_242246.3:n.3126+313C>G (PEX1)
XM_017012319.2:c.1281+313C>G (PEX1)	XP_016867808.1:n.1281+313C>G
XR_001744808.2:n.2057+313C>G (PEX1)
XR_001744843.2:n.4949G>C (GATAD1)
XR_242246.5:n.3077+313C>G (PEX1)
XR_927494.3:n.3800G>C (GATAD1)
XR_927503.3:n.3731G>C (GATAD1)
NM_000466.3:c.3030+313C>G (PEX1) MANE Select	NP_000457.1:n.3030+313C>G
NM_001282677.2:c.2859+313C>G (PEX1)	NP_001269606.1:n.2859+313C>G
NM_001282678.2:c.2406+313C>G (PEX1)	NP_001269607.1:n.2406+313C>G