Canonical Allele Identifier: CA368201690

Gene: PEX1

Linked Data

• MyVariant Identifiers: chr7:g.92147323A>C (hg19) ; chr7:g.92518009A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92518009A>C , CM000669.2:g.92518009A>C	GRCh38
NC_000007.13:g.92147323A>C , CM000669.1:g.92147323A>C	GRCh37
NC_000007.12:g.91985259A>C	NCBI36
NG_008341.1:g.15523T>G
NG_008341.2:g.15523T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.506T>G MANE Select	ENSP00000248633.4:p.Leu169Arg
ENST00000248633.8:c.506T>G	ENSP00000248633.4:p.Leu169Arg
ENST00000428214.5:c.506T>G	ENSP00000394413.1:p.Leu169Arg
ENST00000438045.5:c.274-4042T>G	ENSP00000410438.1:n.274-4042T>G
ENST00000484913.5:n.545T>G
NM_000466.2:c.506T>G	NP_000457.1:p.Leu169Arg
NM_001282677.1:c.506T>G	NP_001269606.1:p.Leu169Arg
NM_001282678.1:c.-119T>G	NP_001269607.1:n.-119T>G
XR_242246.3:n.602T>G
XR_242246.5:n.553T>G
NM_000466.3:c.506T>G MANE Select	NP_000457.1:p.Leu169Arg
NM_001282677.2:c.506T>G	NP_001269606.1:p.Leu169Arg
NM_001282678.2:c.-119T>G	NP_001269607.1:n.-119T>G