Canonical Allele Identifier: CA368167603

Gene: PEX1 GATAD1

Linked Data

• dbSNP Id: rs1257122463
• gnomAD v2: 7-92123673-C-G
• gnomAD v3: 7-92494359-C-G
• gnomAD v4: 7-92494359-C-G
• MyVariant Identifiers: chr7:g.92123673C>G (hg19) ; chr7:g.92494359C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92494359C>G , CM000669.2:g.92494359C>G	GRCh38
NC_000007.13:g.92123673C>G , CM000669.1:g.92123673C>G	GRCh37
NC_000007.12:g.91961609C>G	NCBI36
NG_008341.1:g.39173G>C
NG_008341.2:g.39173G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.2964G>C (PEX1) MANE Select	ENSP00000248633.4:p.Leu988Phe
ENST00000248633.8:c.2964G>C (PEX1)	ENSP00000248633.4:p.Leu988Phe
ENST00000428214.5:c.2793G>C (PEX1)	ENSP00000394413.1:p.Leu931Phe
ENST00000438045.5:c.1998G>C (PEX1)	ENSP00000410438.1:p.Leu666Phe
ENST00000484913.5:n.3003G>C (PEX1)
ENST00000496420.5:n.2856G>C (PEX1)
NM_000466.2:c.2964G>C (PEX1)	NP_000457.1:p.Leu988Phe
NM_001282677.1:c.2793G>C (PEX1)	NP_001269606.1:p.Leu931Phe
NM_001282678.1:c.2340G>C (PEX1)	NP_001269607.1:p.Leu780Phe
XM_005250433.3:c.1215G>C (PEX1)	XP_005250490.1:p.Leu405Phe
XR_242246.3:n.3060G>C (PEX1)
XM_017012319.2:c.1215G>C (PEX1)	XP_016867808.1:p.Leu405Phe
XR_001744808.2:n.1991G>C (PEX1)
XR_001744843.2:n.5328C>G (GATAD1)
XR_242246.5:n.3011G>C (PEX1)
XR_927494.3:n.4179C>G (GATAD1)
XR_927503.3:n.4110C>G (GATAD1)
NM_000466.3:c.2964G>C (PEX1) MANE Select	NP_000457.1:p.Leu988Phe
NM_001282677.2:c.2793G>C (PEX1)	NP_001269606.1:p.Leu931Phe
NM_001282678.2:c.2340G>C (PEX1)	NP_001269607.1:p.Leu780Phe