Canonical Allele Identifier: CA4341254

Gene: PEX1

Linked Data

• ClinVar Variation Id: 2194576
• ClinVar RCV Id: RCV002647453
• dbSNP Id: rs759403845
• ExAC: 7:92134199 T / A
• gnomAD v2: 7-92134199-T-A
• gnomAD v3: 7-92504885-T-A
• gnomAD v4: 7-92504885-T-A
• MyVariant Identifiers: chr7:g.92134199T>A (hg19) ; chr7:g.92504885T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92504885T>A , CM000669.2:g.92504885T>A	GRCh38
NC_000007.13:g.92134199T>A , CM000669.1:g.92134199T>A	GRCh37
NC_000007.12:g.91972135T>A	NCBI36
NG_008341.1:g.28647A>T
NG_008341.2:g.28647A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.1918A>T MANE Select	ENSP00000248633.4:p.Ile640Leu
ENST00000248633.8:c.1918A>T	ENSP00000248633.4:p.Ile640Leu
ENST00000428214.5:c.1900+1363A>T	ENSP00000394413.1:n.1900+1363A>T
ENST00000438045.5:c.952A>T	ENSP00000410438.1:p.Ile318Leu
ENST00000484913.5:n.1957A>T
ENST00000496420.5:n.1594A>T
NM_000466.2:c.1918A>T	NP_000457.1:p.Ile640Leu
NM_001282677.1:c.1900+1363A>T	NP_001269606.1:n.1900+1363A>T
NM_001282678.1:c.1294A>T	NP_001269607.1:p.Ile432Leu
XM_005250433.3:c.169A>T	XP_005250490.1:p.Ile57Leu
XR_242246.3:n.2014A>T
XM_017012319.2:c.169A>T	XP_016867808.1:p.Ile57Leu
XR_001744808.2:n.945A>T
XR_242246.5:n.1965A>T
NM_000466.3:c.1918A>T MANE Select	NP_000457.1:p.Ile640Leu
NM_001282677.2:c.1900+1363A>T	NP_001269606.1:n.1900+1363A>T
NM_001282678.2:c.1294A>T	NP_001269607.1:p.Ile432Leu