Canonical Allele Identifier: CA368205003

Gene: PEX1

Linked Data

• MyVariant Identifiers: chr7:g.92151496G>A (hg19) ; chr7:g.92522182G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92522182G>A , CM000669.2:g.92522182G>A	GRCh38
NC_000007.13:g.92151496G>A , CM000669.1:g.92151496G>A	GRCh37
NC_000007.12:g.91989432G>A	NCBI36
NG_008341.1:g.11350C>T
NG_008341.2:g.11350C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.193C>T MANE Select	ENSP00000248633.4:p.His65Tyr
ENST00000248633.8:c.193C>T	ENSP00000248633.4:p.His65Tyr
ENST00000428214.5:c.193C>T	ENSP00000394413.1:p.His65Tyr
ENST00000438045.5:c.193C>T	ENSP00000410438.1:p.His65Tyr
ENST00000484913.5:n.197C>T
NM_000466.2:c.193C>T	NP_000457.1:p.His65Tyr
NM_001282677.1:c.193C>T	NP_001269606.1:p.His65Tyr
NM_001282678.1:c.-467C>T	NP_001269607.1:n.-467C>T
XR_242246.3:n.289C>T
XR_242246.5:n.240C>T
NM_000466.3:c.193C>T MANE Select	NP_000457.1:p.His65Tyr
NM_001282677.2:c.193C>T	NP_001269606.1:p.His65Tyr
NM_001282678.2:c.-467C>T	NP_001269607.1:n.-467C>T