Canonical Allele Identifier: CA269460380
Gene: SLC12A1 HGNC NCBI

Linked Data

dbSNP Id: rs999212774

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48229324T>C , CM000677.2:g.48229324T>C GRCh38
NC_000015.9:g.48521521T>C , CM000677.1:g.48521521T>C GRCh37
NC_000015.8:g.46308813T>C NCBI36
NG_021301.1:g.28024T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000686073.1:c.860T>C ENSP00000508901.1:p.Leu287Pro
ENST00000380993.8:c.860T>C MANE Select ENSP00000370381.3:p.Leu287Pro
ENST00000646012.1:c.998T>C ENSP00000495813.1:p.Leu333Pro
ENST00000647232.1:c.860T>C ENSP00000493875.1:p.Leu287Pro
ENST00000647546.1:c.860T>C ENSP00000495332.1:p.Leu287Pro
ENST00000330289.10:c.860T>C ENSP00000331550.6:p.Leu287Pro
ENST00000380993.7:c.860T>C ENSP00000370381.3:p.Leu287Pro
ENST00000396577.7:c.860T>C ENSP00000379822.3:p.Leu287Pro
ENST00000558252.5:n.4983T>C
ENST00000558405.5:c.860T>C ENSP00000453409.1:p.Leu287Pro
ENST00000559641.5:c.299T>C ENSP00000453230.1:p.Leu100Pro
ENST00000559723.2:n.233T>C
ENST00000560692.5:n.4999T>C
ENST00000561127.5:c.299T>C ENSP00000453602.2:p.Leu100Pro
NM_000338.2:c.860T>C NP_000329.2:p.Leu287Pro
NM_001184832.1:c.860T>C NP_001171761.1:p.Leu287Pro
XM_005254605.1:c.956T>C XP_005254662.1:p.Leu319Pro
XM_005254606.1:c.860T>C XP_005254663.1:p.Leu287Pro
XM_006720656.1:c.956T>C XP_006720719.1:p.Leu319Pro
XR_931896.1:n.1172T>C
XR_932203.1:n.229+632A>G
XR_932204.1:n.222+632A>G
XM_005254606.2:c.860T>C XP_005254663.1:p.Leu287Pro
XR_001751524.2:n.230+632A>G
XR_001751525.1:n.230+632A>G
XR_002957762.1:n.230+632A>G
XR_932204.3:n.224+632A>G
NM_000338.3:c.860T>C MANE Select NP_000329.2:p.Leu287Pro
NM_001184832.2:c.860T>C NP_001171761.1:p.Leu287Pro
NM_001384136.1:c.860T>C NP_001371065.1:p.Leu287Pro