Canonical Allele Identifier: CA1676930254
Gene: SLC22A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.160154958G= , CM000668.2:g.160154958G= GRCh38
NC_000006.11:g.160575990G= , CM000668.1:g.160575990G= GRCh37
NC_000006.10:g.160495980G= NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000366963.9:c.1498+48G= MANE Select ENSP00000355930.4:n.1498+48G=
ENST00000324965.8:c.1386-1017G= ENSP00000318103.4:n.1386-1017G=
ENST00000366963.8:c.1498+48G= ENSP00000355930.4:n.1498+48G=
ENST00000457470.6:c.1386-3558G= ENSP00000409557.2:n.1386-3558G=
ENST00000460902.2:c.1283+48G= ENSP00000439274.1:n.1283+48G=
ENST00000539263.5:c.*971+48G= ENSP00000443245.1:n.*971+48G=
NM_003057.2:c.1498+48G= NP_003048.1:n.1498+48G=
NM_153187.1:c.1386-1017G= NP_694857.1:n.1386-1017G=
XM_005267102.3:c.1498+48G= XP_005267159.1:n.1498+48G=
XM_005267103.1:c.1498+48G= XP_005267160.1:n.1498+48G=
XM_005267104.3:c.922+48G= XP_005267161.1:n.922+48G=
XM_005267105.3:c.922+48G= XP_005267162.1:n.922+48G=
XM_006715552.1:c.1386-3558G= XP_006715615.1:n.1386-3558G=
XM_011536074.1:c.922+48G= XP_011534376.1:n.922+48G=
XM_005267102.5:c.1498+48G= XP_005267159.1:n.1498+48G=
XM_005267103.2:c.1498+48G= XP_005267160.1:n.1498+48G=
XM_005267104.5:c.922+48G= XP_005267161.1:n.922+48G=
XM_005267105.5:c.922+48G= XP_005267162.1:n.922+48G=
XM_006715552.2:c.1386-3558G= XP_006715615.1:n.1386-3558G=
XM_011536074.3:c.922+48G= XP_011534376.1:n.922+48G=
NM_003057.3:c.1498+48G= MANE Select NP_003048.1:n.1498+48G=
NM_153187.2:c.1386-1017G= NP_694857.1:n.1386-1017G=