Canonical Allele Identifier: CA4341137

Gene: PEX1

Linked Data

• ClinVar Variation Id: 360923
• ClinVar RCV Id: RCV000264448 ; RCV001770285
• dbSNP Id: rs750911436
• ExAC: 7:92131212 G / A
• gnomAD v2: 7-92131212-G-A
• gnomAD v4: 7-92501898-G-A
• MyVariant Identifiers: chr7:g.92131212G>A (hg19) ; chr7:g.92501898G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92501898G>A , CM000669.2:g.92501898G>A	GRCh38
NC_000007.13:g.92131212G>A , CM000669.1:g.92131212G>A	GRCh37
NC_000007.12:g.91969148G>A	NCBI36
NG_008341.1:g.31634C>T
NG_008341.2:g.31634C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2408C>T MANE Select	ENSP00000248633.4:p.Thr803Ile
ENST00000248633.8:c.2408C>T	ENSP00000248633.4:p.Thr803Ile
ENST00000428214.5:c.2237C>T	ENSP00000394413.1:p.Thr746Ile
ENST00000438045.5:c.1442C>T	ENSP00000410438.1:p.Thr481Ile
ENST00000484913.5:n.2447C>T
ENST00000496092.1:n.206C>T
ENST00000496420.5:n.2084C>T
NM_000466.2:c.2408C>T	NP_000457.1:p.Thr803Ile
NM_001282677.1:c.2237C>T	NP_001269606.1:p.Thr746Ile
NM_001282678.1:c.1784C>T	NP_001269607.1:p.Thr595Ile
XM_005250433.3:c.659C>T	XP_005250490.1:p.Thr220Ile
XR_242246.3:n.2504C>T
XM_017012319.2:c.659C>T	XP_016867808.1:p.Thr220Ile
XR_001744808.2:n.1435C>T
XR_242246.5:n.2455C>T
NM_000466.3:c.2408C>T MANE Select	NP_000457.1:p.Thr803Ile
NM_001282677.2:c.2237C>T	NP_001269606.1:p.Thr746Ile
NM_001282678.2:c.1784C>T	NP_001269607.1:p.Thr595Ile