Canonical Allele Identifier: CA368183874

Gene: PEX1

Linked Data

• MyVariant Identifiers: chr7:g.92134169C>T (hg19) ; chr7:g.92504855C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92504855C>T , CM000669.2:g.92504855C>T	GRCh38
NC_000007.13:g.92134169C>T , CM000669.1:g.92134169C>T	GRCh37
NC_000007.12:g.91972105C>T	NCBI36
NG_008341.1:g.28677G>A
NG_008341.2:g.28677G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.1948G>A MANE Select	ENSP00000248633.4:p.Glu650Lys
ENST00000248633.8:c.1948G>A	ENSP00000248633.4:p.Glu650Lys
ENST00000428214.5:c.1900+1393G>A	ENSP00000394413.1:n.1900+1393G>A
ENST00000438045.5:c.982G>A	ENSP00000410438.1:p.Glu328Lys
ENST00000484913.5:n.1987G>A
ENST00000496420.5:n.1624G>A
NM_000466.2:c.1948G>A	NP_000457.1:p.Glu650Lys
NM_001282677.1:c.1900+1393G>A	NP_001269606.1:n.1900+1393G>A
NM_001282678.1:c.1324G>A	NP_001269607.1:p.Glu442Lys
XM_005250433.3:c.199G>A	XP_005250490.1:p.Glu67Lys
XR_242246.3:n.2044G>A
XM_017012319.2:c.199G>A	XP_016867808.1:p.Glu67Lys
XR_001744808.2:n.975G>A
XR_242246.5:n.1995G>A
NM_000466.3:c.1948G>A MANE Select	NP_000457.1:p.Glu650Lys
NM_001282677.2:c.1900+1393G>A	NP_001269606.1:n.1900+1393G>A
NM_001282678.2:c.1324G>A	NP_001269607.1:p.Glu442Lys