Canonical Allele Identifier: CA368184037

Gene: PEX1

Linked Data

• dbSNP Id: rs1792107504
• MyVariant Identifiers: chr7:g.92134184C>A (hg19) ; chr7:g.92504870C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92504870C>A , CM000669.2:g.92504870C>A	GRCh38
NC_000007.13:g.92134184C>A , CM000669.1:g.92134184C>A	GRCh37
NC_000007.12:g.91972120C>A	NCBI36
NG_008341.1:g.28662G>T
NG_008341.2:g.28662G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.1933G>T MANE Select	ENSP00000248633.4:p.Glu645Ter
ENST00000248633.8:c.1933G>T	ENSP00000248633.4:p.Glu645Ter
ENST00000428214.5:c.1900+1378G>T	ENSP00000394413.1:n.1900+1378G>T
ENST00000438045.5:c.967G>T	ENSP00000410438.1:p.Glu323Ter
ENST00000484913.5:n.1972G>T
ENST00000496420.5:n.1609G>T
NM_000466.2:c.1933G>T	NP_000457.1:p.Glu645Ter
NM_001282677.1:c.1900+1378G>T	NP_001269606.1:n.1900+1378G>T
NM_001282678.1:c.1309G>T	NP_001269607.1:p.Glu437Ter
XM_005250433.3:c.184G>T	XP_005250490.1:p.Glu62Ter
XR_242246.3:n.2029G>T
XM_017012319.2:c.184G>T	XP_016867808.1:p.Glu62Ter
XR_001744808.2:n.960G>T
XR_242246.5:n.1980G>T
NM_000466.3:c.1933G>T MANE Select	NP_000457.1:p.Glu645Ter
NM_001282677.2:c.1900+1378G>T	NP_001269606.1:n.1900+1378G>T
NM_001282678.2:c.1309G>T	NP_001269607.1:p.Glu437Ter