Canonical Allele Identifier: CA1140473514
Gene: SORT1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.109369429A= , CM000663.2:g.109369429A= GRCh38
NC_000001.10:g.109912051A= , CM000663.1:g.109912051A= GRCh37
NC_000001.9:g.109713574A= NCBI36
NG_028280.1:g.33513T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000256637.8:c.366+101T= MANE Select ENSP00000256637.6:n.366+101T=
ENST00000256637.7:c.366+101T= ENSP00000256637.6:n.366+101T=
ENST00000482236.5:c.-43+101T= ENSP00000487712.1:n.-43+101T=
ENST00000483508.5:n.60+101T=
ENST00000493736.5:c.-43+101T= ENSP00000488262.1:n.-43+101T=
ENST00000495777.5:n.60+101T=
ENST00000538502.5:c.-43+101T= ENSP00000438597.1:n.-43+101T=
ENST00000633956.1:c.-43+101T= ENSP00000488662.1:n.-43+101T=
NM_001205228.1:c.-43+101T= NP_001192157.1:n.-43+101T=
NM_002959.5:c.366+101T= NP_002950.3:n.366+101T=
NM_002959.6:c.366+101T= NP_002950.3:n.366+101T=
XM_005271100.2:c.366+101T= XP_005271157.1:n.366+101T=
XM_005271101.1:c.-43+101T= XP_005271158.1:n.-43+101T=
XM_005271102.1:c.-43+101T= XP_005271159.1:n.-43+101T=
XM_006710812.1:c.-43+101T= XP_006710875.1:n.-43+101T=
XM_005271101.3:c.-43+101T= XP_005271158.1:n.-43+101T=
XM_005271102.2:c.-43+101T= XP_005271159.1:n.-43+101T=
XM_006710812.2:c.-43+101T= XP_006710875.1:n.-43+101T=
NM_002959.7:c.366+101T= MANE Select NP_002950.3:n.366+101T=
NM_001205228.2:c.-43+101T= NP_001192157.1:n.-43+101T=