Canonical Allele Identifier: CA456481421

Linked Data

MyVariant Identifiers: chr7:g.92123613A>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92494299A>T , CM000669.2:g.92494299A>T GRCh38
NC_000007.13:g.92123613A>T , CM000669.1:g.92123613A>T GRCh37
NC_000007.12:g.91961549A>T NCBI36
NG_008341.1:g.39233T>A
NG_008341.2:g.39233T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000248633.9:c.3024T>A (PEX1) MANE Select ENSP00000248633.4:p.Pro1008=
ENST00000248633.8:c.3024T>A (PEX1) ENSP00000248633.4:p.Pro1008=
ENST00000428214.5:c.2853T>A (PEX1) ENSP00000394413.1:p.Pro951=
ENST00000438045.5:c.2058T>A (PEX1) ENSP00000410438.1:p.Pro686=
ENST00000484913.5:n.3063T>A (PEX1)
ENST00000496420.5:n.2916T>A (PEX1)
NM_000466.2:c.3024T>A (PEX1) NP_000457.1:p.Pro1008=
NM_001282677.1:c.2853T>A (PEX1) NP_001269606.1:p.Pro951=
NM_001282678.1:c.2400T>A (PEX1) NP_001269607.1:p.Pro800=
XM_005250433.3:c.1275T>A (PEX1) XP_005250490.1:p.Pro425=
XR_242246.3:n.3120T>A (PEX1)
XM_017012319.2:c.1275T>A (PEX1) XP_016867808.1:p.Pro425=
XR_001744808.2:n.2051T>A (PEX1)
XR_001744843.2:n.5268A>T (GATAD1)
XR_242246.5:n.3071T>A (PEX1)
XR_927494.3:n.4119A>T (GATAD1)
XR_927503.3:n.4050A>T (GATAD1)
NM_000466.3:c.3024T>A (PEX1) MANE Select NP_000457.1:p.Pro1008=
NM_001282677.2:c.2853T>A (PEX1) NP_001269606.1:p.Pro951=
NM_001282678.2:c.2400T>A (PEX1) NP_001269607.1:p.Pro800=