Canonical Allele Identifier: CA161964501

Gene: PEX1

Linked Data

• dbSNP Id: rs545322857
• gnomAD v2: 7-92133951-T-A
• gnomAD v3: 7-92504637-T-A
• gnomAD v4: 7-92504637-T-A
• MyVariant Identifiers: chr7:g.92133951T>A (hg19) ; chr7:g.92504637T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92504637T>A , CM000669.2:g.92504637T>A	GRCh38
NC_000007.13:g.92133951T>A , CM000669.1:g.92133951T>A	GRCh37
NC_000007.12:g.91971887T>A	NCBI36
NG_008341.1:g.28895A>T
NG_008341.2:g.28895A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.2071+95A>T MANE Select	ENSP00000248633.4:n.2071+95A>T
ENST00000248633.8:c.2071+95A>T	ENSP00000248633.4:n.2071+95A>T
ENST00000428214.5:c.1901-1442A>T	ENSP00000394413.1:n.1901-1442A>T
ENST00000438045.5:c.1105+95A>T	ENSP00000410438.1:n.1105+95A>T
ENST00000484913.5:n.2110+95A>T
ENST00000496420.5:n.1747+95A>T
NM_000466.2:c.2071+95A>T	NP_000457.1:n.2071+95A>T
NM_001282677.1:c.1901-1442A>T	NP_001269606.1:n.1901-1442A>T
NM_001282678.1:c.1447+95A>T	NP_001269607.1:n.1447+95A>T
XM_005250433.3:c.322+95A>T	XP_005250490.1:n.322+95A>T
XR_242246.3:n.2167+95A>T
XM_017012319.2:c.322+95A>T	XP_016867808.1:n.322+95A>T
XR_001744808.2:n.1098+95A>T
XR_242246.5:n.2118+95A>T
NM_000466.3:c.2071+95A>T MANE Select	NP_000457.1:n.2071+95A>T
NM_001282677.2:c.1901-1442A>T	NP_001269606.1:n.1901-1442A>T
NM_001282678.2:c.1447+95A>T	NP_001269607.1:n.1447+95A>T