Canonical Allele Identifier: CA368160642

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92489716C>A , CM000669.2:g.92489716C>A GRCh38
NC_000007.13:g.92119030C>A , CM000669.1:g.92119030C>A GRCh37
NC_000007.12:g.91956966C>A NCBI36
NG_008341.1:g.43816G>T
NG_008341.2:g.43816G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000248633.9:c.3634G>T (PEX1) MANE Select ENSP00000248633.4:p.Gly1212Ter
ENST00000248633.8:c.3634G>T (PEX1) ENSP00000248633.4:p.Gly1212Ter
ENST00000428214.5:c.3463G>T (PEX1) ENSP00000394413.1:p.Gly1155Ter
ENST00000438045.5:c.2668G>T (PEX1) ENSP00000410438.1:p.Gly890Ter
ENST00000469417.1:n.531G>T (PEX1)
ENST00000477342.1:n.79G>T (PEX1)
ENST00000484913.5:n.3673G>T (PEX1)
ENST00000496420.5:n.4686+3G>T (PEX1)
NM_000466.2:c.3634G>T (PEX1) NP_000457.1:p.Gly1212Ter
NM_001282677.1:c.3463G>T (PEX1) NP_001269606.1:p.Gly1155Ter
NM_001282678.1:c.3010G>T (PEX1) NP_001269607.1:p.Gly1004Ter
XM_005250433.3:c.1885G>T (PEX1) XP_005250490.1:p.Gly629Ter
XR_242246.3:n.3727+3G>T (PEX1)
XR_927494.1:n.1036-1527C>A (GATAD1)
XR_927495.1:n.1036-370C>A (GATAD1)
XR_927496.1:n.1041-1527C>A (GATAD1)
XR_927497.1:n.1036-370C>A (GATAD1)
XR_927498.1:n.1124-1527C>A (GATAD1)
XR_927500.1:n.1033-1527C>A (GATAD1)
XR_927502.1:n.1033-370C>A (GATAD1)
XR_927503.1:n.967-1527C>A (GATAD1)
XM_017012319.2:c.1885G>T (PEX1) XP_016867808.1:p.Gly629Ter
XR_001744808.2:n.2658+3G>T (PEX1)
XR_001744842.2:n.2281-1527C>A (GATAD1)
XR_001744843.2:n.2212-1527C>A (GATAD1)
XR_002956472.1:n.2281-370C>A (GATAD1)
XR_002956473.1:n.2369-1527C>A (GATAD1)
XR_002956474.1:n.2286-1527C>A (GATAD1)
XR_242246.5:n.3678+3G>T (PEX1)
XR_927494.3:n.1063-1527C>A (GATAD1)
XR_927500.3:n.1060-1527C>A (GATAD1)
XR_927503.3:n.994-1527C>A (GATAD1)
NM_000466.3:c.3634G>T (PEX1) MANE Select NP_000457.1:p.Gly1212Ter
NM_001282677.2:c.3463G>T (PEX1) NP_001269606.1:p.Gly1155Ter
NM_001282678.2:c.3010G>T (PEX1) NP_001269607.1:p.Gly1004Ter