Canonical Allele Identifier: CA456483268
Gene: PEX1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr7:g.92134077A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92504763A>G , CM000669.2:g.92504763A>G GRCh38
NC_000007.13:g.92134077A>G , CM000669.1:g.92134077A>G GRCh37
NC_000007.12:g.91972013A>G NCBI36
NG_008341.1:g.28769T>C
NG_008341.2:g.28769T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000248633.9:c.2040T>C MANE Select ENSP00000248633.4:p.Pro680=
ENST00000248633.8:c.2040T>C ENSP00000248633.4:p.Pro680=
ENST00000428214.5:c.1900+1485T>C ENSP00000394413.1:n.1900+1485T>C
ENST00000438045.5:c.1074T>C ENSP00000410438.1:p.Pro358=
ENST00000484913.5:n.2079T>C
ENST00000496420.5:n.1716T>C
NM_000466.2:c.2040T>C NP_000457.1:p.Pro680=
NM_001282677.1:c.1900+1485T>C NP_001269606.1:n.1900+1485T>C
NM_001282678.1:c.1416T>C NP_001269607.1:p.Pro472=
XM_005250433.3:c.291T>C XP_005250490.1:p.Pro97=
XR_242246.3:n.2136T>C
XM_017012319.2:c.291T>C XP_016867808.1:p.Pro97=
XR_001744808.2:n.1067T>C
XR_242246.5:n.2087T>C
NM_000466.3:c.2040T>C MANE Select NP_000457.1:p.Pro680=
NM_001282677.2:c.1900+1485T>C NP_001269606.1:n.1900+1485T>C
NM_001282678.2:c.1416T>C NP_001269607.1:p.Pro472=