Canonical Allele Identifier: CA368174042

Gene: PEX1

Linked Data

• ClinVar Variation Id: 1970746
• ClinVar RCV Id: RCV002760482
• dbSNP Id: rs1791835892
• gnomAD v3: 7-92499802-T-C
• gnomAD v4: 7-92499802-T-C
• MyVariant Identifiers: chr7:g.92129116T>C (hg19) ; chr7:g.92499802T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92499802T>C , CM000669.2:g.92499802T>C	GRCh38
NC_000007.13:g.92129116T>C , CM000669.1:g.92129116T>C	GRCh37
NC_000007.12:g.91967052T>C	NCBI36
NG_008341.1:g.33730A>G
NG_008341.2:g.33730A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2620A>G MANE Select	ENSP00000248633.4:p.Arg874Gly
ENST00000248633.8:c.2620A>G	ENSP00000248633.4:p.Arg874Gly
ENST00000428214.5:c.2449A>G	ENSP00000394413.1:p.Arg817Gly
ENST00000438045.5:c.1654A>G	ENSP00000410438.1:p.Arg552Gly
ENST00000484913.5:n.2659A>G
ENST00000496420.5:n.2512A>G
NM_000466.2:c.2620A>G	NP_000457.1:p.Arg874Gly
NM_001282677.1:c.2449A>G	NP_001269606.1:p.Arg817Gly
NM_001282678.1:c.1996A>G	NP_001269607.1:p.Arg666Gly
XM_005250433.3:c.871A>G	XP_005250490.1:p.Arg291Gly
XR_242246.3:n.2716A>G
XM_017012319.2:c.871A>G	XP_016867808.1:p.Arg291Gly
XR_001744808.2:n.1647A>G
XR_242246.5:n.2667A>G
NM_000466.3:c.2620A>G MANE Select	NP_000457.1:p.Arg874Gly
NM_001282677.2:c.2449A>G	NP_001269606.1:p.Arg817Gly
NM_001282678.2:c.1996A>G	NP_001269607.1:p.Arg666Gly