Canonical Allele Identifier: CA2175394363

Gene: SLC12A1

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000686073.1:c.860T=	ENSP00000508901.1:p.Leu287=
ENST00000380993.8:c.860T= MANE Select	ENSP00000370381.3:p.Leu287=
ENST00000646012.1:c.998T=	ENSP00000495813.1:p.Leu333=
ENST00000647232.1:c.860T=	ENSP00000493875.1:p.Leu287=
ENST00000647546.1:c.860T=	ENSP00000495332.1:p.Leu287=
ENST00000330289.10:c.860T=	ENSP00000331550.6:p.Leu287=
ENST00000380993.7:c.860T=	ENSP00000370381.3:p.Leu287=
ENST00000396577.7:c.860T=	ENSP00000379822.3:p.Leu287=
ENST00000558252.5:n.4983T=
ENST00000558405.5:c.860T=	ENSP00000453409.1:p.Leu287=
ENST00000559641.5:c.299T=	ENSP00000453230.1:p.Leu100=
ENST00000559723.2:n.233T=
ENST00000560692.5:n.4999T=
ENST00000561127.5:c.299T=	ENSP00000453602.2:p.Leu100=
NM_000338.2:c.860T=	NP_000329.2:p.Leu287=
NM_001184832.1:c.860T=	NP_001171761.1:p.Leu287=
XM_005254605.1:c.956T=	XP_005254662.1:p.Leu319=
XM_005254606.1:c.860T=	XP_005254663.1:p.Leu287=
XM_006720656.1:c.956T=	XP_006720719.1:p.Leu319=
XR_931896.1:n.1172T=
XR_932203.1:n.229+632A=
XR_932204.1:n.222+632A=
XM_005254606.2:c.860T=	XP_005254663.1:p.Leu287=
XR_001751524.2:n.230+632A=
XR_001751525.1:n.230+632A=
XR_002957762.1:n.230+632A=
XR_932204.3:n.224+632A=
NM_000338.3:c.860T= MANE Select	NP_000329.2:p.Leu287=
NM_001184832.2:c.860T=	NP_001171761.1:p.Leu287=
NM_001384136.1:c.860T=	NP_001371065.1:p.Leu287=