Canonical Allele Identifier: CA990193
Gene: SORT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 737274
ClinVar RCV Id: RCV000913015
dbSNP Id: rs145159492

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.109369563T>C , CM000663.2:g.109369563T>C GRCh38
NC_000001.10:g.109912185T>C , CM000663.1:g.109912185T>C GRCh37
NC_000001.9:g.109713708T>C NCBI36
NG_028280.1:g.33379A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000256637.8:c.333A>G MANE Select ENSP00000256637.6:p.Ser111=
ENST00000256637.7:c.333A>G ENSP00000256637.6:p.Ser111=
ENST00000471996.1:c.436A>G
ENST00000482236.5:c.-76A>G ENSP00000487712.1:n.-76A>G
ENST00000483508.5:n.27A>G
ENST00000493736.5:c.-76A>G ENSP00000488262.1:n.-76A>G
ENST00000495777.5:n.27A>G
ENST00000538502.5:c.-76A>G ENSP00000438597.1:n.-76A>G
ENST00000633956.1:c.-76A>G ENSP00000488662.1:n.-76A>G
NM_001205228.1:c.-76A>G NP_001192157.1:n.-76A>G
NM_002959.5:c.333A>G NP_002950.3:p.Ser111=
NM_002959.6:c.333A>G NP_002950.3:p.Ser111=
XM_005271100.2:c.333A>G XP_005271157.1:p.Ser111=
XM_005271101.1:c.-76A>G XP_005271158.1:n.-76A>G
XM_005271102.1:c.-76A>G XP_005271159.1:n.-76A>G
XM_006710812.1:c.-76A>G XP_006710875.1:n.-76A>G
XM_005271101.3:c.-76A>G XP_005271158.1:n.-76A>G
XM_005271102.2:c.-76A>G XP_005271159.1:n.-76A>G
XM_006710812.2:c.-76A>G XP_006710875.1:n.-76A>G
NM_002959.7:c.333A>G MANE Select NP_002950.3:p.Ser111=
NM_001205228.2:c.-76A>G NP_001192157.1:n.-76A>G