Canonical Allele Identifier: CA2832550002
Gene: SLC22A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.160154855dup , CM000668.2:g.160154855dup GRCh38
NC_000006.11:g.160575887dup , CM000668.1:g.160575887dup GRCh37
NC_000006.10:g.160495877dup NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000366963.9:c.1443dup MANE Select ENSP00000355930.4:p.Phe482LeufsTer?
ENST00000324965.8:c.1386-1120dup ENSP00000318103.4:n.1386-1120dup
ENST00000366963.8:c.1443dup ENSP00000355930.4:p.Phe482LeufsTer?
ENST00000457470.6:c.1386-3661dup ENSP00000409557.2:n.1386-3661dup
ENST00000460902.2:c.1228dup ENSP00000439274.1:n.1228dup
ENST00000539263.5:c.*916dup ENSP00000443245.1:n.*916dup
NM_003057.2:c.1443dup NP_003048.1:p.Phe482LeufsTer?
NM_153187.1:c.1386-1120dup NP_694857.1:n.1386-1120dup
XM_005267102.3:c.1443dup XP_005267159.1:p.Phe482LeufsTer19
XM_005267103.1:c.1443dup XP_005267160.1:p.Phe482LeufsTer?
XM_005267104.3:c.867dup XP_005267161.1:p.Phe290LeufsTer19
XM_005267105.3:c.867dup XP_005267162.1:p.Phe290LeufsTer19
XM_006715552.1:c.1386-3661dup XP_006715615.1:n.1386-3661dup
XM_011536074.1:c.867dup XP_011534376.1:p.Phe290LeufsTer19
XM_005267102.5:c.1443dup XP_005267159.1:p.Phe482LeufsTer19
XM_005267103.2:c.1443dup XP_005267160.1:p.Phe482LeufsTer?
XM_005267104.5:c.867dup XP_005267161.1:p.Phe290LeufsTer19
XM_005267105.5:c.867dup XP_005267162.1:p.Phe290LeufsTer19
XM_006715552.2:c.1386-3661dup XP_006715615.1:n.1386-3661dup
XM_011536074.3:c.867dup XP_011534376.1:p.Phe290LeufsTer19
NM_003057.3:c.1443dup MANE Select NP_003048.1:p.Phe482LeufsTer?
NM_153187.2:c.1386-1120dup NP_694857.1:n.1386-1120dup