Canonical Allele Identifier: CA368183129

Gene: PEX1

Linked Data

• MyVariant Identifiers: chr7:g.92134088C>G (hg19) ; chr7:g.92504774C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92504774C>G , CM000669.2:g.92504774C>G	GRCh38
NC_000007.13:g.92134088C>G , CM000669.1:g.92134088C>G	GRCh37
NC_000007.12:g.91972024C>G	NCBI36
NG_008341.1:g.28758G>C
NG_008341.2:g.28758G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.2029G>C MANE Select	ENSP00000248633.4:p.Glu677Gln
ENST00000248633.8:c.2029G>C	ENSP00000248633.4:p.Glu677Gln
ENST00000428214.5:c.1900+1474G>C	ENSP00000394413.1:n.1900+1474G>C
ENST00000438045.5:c.1063G>C	ENSP00000410438.1:p.Glu355Gln
ENST00000484913.5:n.2068G>C
ENST00000496420.5:n.1705G>C
NM_000466.2:c.2029G>C	NP_000457.1:p.Glu677Gln
NM_001282677.1:c.1900+1474G>C	NP_001269606.1:n.1900+1474G>C
NM_001282678.1:c.1405G>C	NP_001269607.1:p.Glu469Gln
XM_005250433.3:c.280G>C	XP_005250490.1:p.Glu94Gln
XR_242246.3:n.2125G>C
XM_017012319.2:c.280G>C	XP_016867808.1:p.Glu94Gln
XR_001744808.2:n.1056G>C
XR_242246.5:n.2076G>C
NM_000466.3:c.2029G>C MANE Select	NP_000457.1:p.Glu677Gln
NM_001282677.2:c.1900+1474G>C	NP_001269606.1:n.1900+1474G>C
NM_001282678.2:c.1405G>C	NP_001269607.1:p.Glu469Gln