Canonical Allele Identifier: CA368199382

Gene: PEX1

Linked Data

• MyVariant Identifiers: chr7:g.92146973T>C (hg19) ; chr7:g.92517659T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92517659T>C , CM000669.2:g.92517659T>C	GRCh38
NC_000007.13:g.92146973T>C , CM000669.1:g.92146973T>C	GRCh37
NC_000007.12:g.91984909T>C	NCBI36
NG_008341.1:g.15873A>G
NG_008341.2:g.15873A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.856A>G MANE Select	ENSP00000248633.4:p.Ile286Val
ENST00000248633.8:c.856A>G	ENSP00000248633.4:p.Ile286Val
ENST00000428214.5:c.856A>G	ENSP00000394413.1:p.Ile286Val
ENST00000438045.5:c.274-3692A>G	ENSP00000410438.1:n.274-3692A>G
ENST00000484913.5:n.895A>G
NM_000466.2:c.856A>G	NP_000457.1:p.Ile286Val
NM_001282677.1:c.856A>G	NP_001269606.1:p.Ile286Val
NM_001282678.1:c.232A>G	NP_001269607.1:p.Ile78Val
XR_242246.3:n.952A>G
XR_242246.5:n.903A>G
NM_000466.3:c.856A>G MANE Select	NP_000457.1:p.Ile286Val
NM_001282677.2:c.856A>G	NP_001269606.1:p.Ile286Val
NM_001282678.2:c.232A>G	NP_001269607.1:p.Ile78Val