Canonical Allele Identifier: CA2628316729

Gene: SLC12A1

Linked Data

• gnomAD v4: 15-48229286-G-GT

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48229287dup , CM000677.2:g.48229287dup	GRCh38
NC_000015.9:g.48521484dup , CM000677.1:g.48521484dup	GRCh37
NC_000015.8:g.46308776dup	NCBI36
NG_021301.1:g.27987dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686073.1:c.823dup	ENSP00000508901.1:p.Tyr275LeufsTer7
ENST00000380993.8:c.823dup MANE Select	ENSP00000370381.3:p.Tyr275LeufsTer7
ENST00000646012.1:c.961dup	ENSP00000495813.1:p.Tyr321LeufsTer7
ENST00000647232.1:c.823dup	ENSP00000493875.1:p.Tyr275LeufsTer7
ENST00000647546.1:c.823dup	ENSP00000495332.1:p.Tyr275LeufsTer7
ENST00000330289.10:c.823dup	ENSP00000331550.6:p.Tyr275LeufsTer7
ENST00000380993.7:c.823dup	ENSP00000370381.3:p.Tyr275LeufsTer7
ENST00000396577.7:c.823dup	ENSP00000379822.3:p.Tyr275LeufsTer7
ENST00000558252.5:n.4946dup
ENST00000558405.5:c.823dup	ENSP00000453409.1:p.Tyr275LeufsTer7
ENST00000559641.5:c.262dup	ENSP00000453230.1:p.Tyr88LeufsTer7
ENST00000559723.2:n.196dup
ENST00000560692.5:n.4962dup
ENST00000561127.5:c.262dup	ENSP00000453602.2:p.Tyr88LeufsTer7
NM_000338.2:c.823dup	NP_000329.2:p.Tyr275LeufsTer7
NM_001184832.1:c.823dup	NP_001171761.1:p.Tyr275LeufsTer7
XM_005254605.1:c.919dup	XP_005254662.1:p.Tyr307LeufsTer7
XM_005254606.1:c.823dup	XP_005254663.1:p.Tyr275LeufsTer7
XM_006720656.1:c.919dup	XP_006720719.1:p.Tyr307LeufsTer7
XR_931896.1:n.1135dup
XR_932203.1:n.229+669dup
XR_932204.1:n.222+669dup
XM_005254606.2:c.823dup	XP_005254663.1:p.Tyr275LeufsTer7
XR_001751524.2:n.230+669dup
XR_001751525.1:n.230+669dup
XR_002957762.1:n.230+669dup
XR_932204.3:n.224+669dup
NM_000338.3:c.823dup MANE Select	NP_000329.2:p.Tyr275LeufsTer7
NM_001184832.2:c.823dup	NP_001171761.1:p.Tyr275LeufsTer7
NM_001384136.1:c.823dup	NP_001371065.1:p.Tyr275LeufsTer7