Canonical Allele Identifier: CA368197483

Gene: PEX1

Linked Data

• MyVariant Identifiers: chr7:g.92146655C>T (hg19) ; chr7:g.92517341C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92517341C>T , CM000669.2:g.92517341C>T	GRCh38
NC_000007.13:g.92146655C>T , CM000669.1:g.92146655C>T	GRCh37
NC_000007.12:g.91984591C>T	NCBI36
NG_008341.1:g.16191G>A
NG_008341.2:g.16191G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.1174G>A MANE Select	ENSP00000248633.4:p.Glu392Lys
ENST00000248633.8:c.1174G>A	ENSP00000248633.4:p.Glu392Lys
ENST00000422866.1:c.75G>A
ENST00000428214.5:c.1174G>A	ENSP00000394413.1:p.Glu392Lys
ENST00000438045.5:c.274-3374G>A	ENSP00000410438.1:n.274-3374G>A
ENST00000484913.5:n.1213G>A
NM_000466.2:c.1174G>A	NP_000457.1:p.Glu392Lys
NM_001282677.1:c.1174G>A	NP_001269606.1:p.Glu392Lys
NM_001282678.1:c.550G>A	NP_001269607.1:p.Glu184Lys
XR_242246.3:n.1270G>A
XM_017012319.2:c.-493G>A	XP_016867808.1:n.-493G>A
XR_001744808.2:n.284G>A
XR_242246.5:n.1221G>A
NM_000466.3:c.1174G>A MANE Select	NP_000457.1:p.Glu392Lys
NM_001282677.2:c.1174G>A	NP_001269606.1:p.Glu392Lys
NM_001282678.2:c.550G>A	NP_001269607.1:p.Glu184Lys