Canonical Allele Identifier: CA4341223

Gene: PEX1

Linked Data

• ClinVar Variation Id: 2161152
• ClinVar RCV Id: RCV003087902
• dbSNP Id: rs779308096
• ExAC: 7:92134034 G / A
• gnomAD v2: 7-92134034-G-A
• gnomAD v4: 7-92504720-G-A
• MyVariant Identifiers: chr7:g.92134034G>A (hg19) ; chr7:g.92504720G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92504720G>A , CM000669.2:g.92504720G>A	GRCh38
NC_000007.13:g.92134034G>A , CM000669.1:g.92134034G>A	GRCh37
NC_000007.12:g.91971970G>A	NCBI36
NG_008341.1:g.28812C>T
NG_008341.2:g.28812C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.2071+12C>T MANE Select	ENSP00000248633.4:n.2071+12C>T
ENST00000248633.8:c.2071+12C>T	ENSP00000248633.4:n.2071+12C>T
ENST00000428214.5:c.1901-1525C>T	ENSP00000394413.1:n.1901-1525C>T
ENST00000438045.5:c.1105+12C>T	ENSP00000410438.1:n.1105+12C>T
ENST00000484913.5:n.2110+12C>T
ENST00000496420.5:n.1747+12C>T
NM_000466.2:c.2071+12C>T	NP_000457.1:n.2071+12C>T
NM_001282677.1:c.1901-1525C>T	NP_001269606.1:n.1901-1525C>T
NM_001282678.1:c.1447+12C>T	NP_001269607.1:n.1447+12C>T
XM_005250433.3:c.322+12C>T	XP_005250490.1:n.322+12C>T
XR_242246.3:n.2167+12C>T
XM_017012319.2:c.322+12C>T	XP_016867808.1:n.322+12C>T
XR_001744808.2:n.1098+12C>T
XR_242246.5:n.2118+12C>T
NM_000466.3:c.2071+12C>T MANE Select	NP_000457.1:n.2071+12C>T
NM_001282677.2:c.1901-1525C>T	NP_001269606.1:n.1901-1525C>T
NM_001282678.2:c.1447+12C>T	NP_001269607.1:n.1447+12C>T