Canonical Allele Identifier: CA2175394348

Gene: SLC12A1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48229320C= , CM000677.2:g.48229320C=	GRCh38
NC_000015.9:g.48521517C= , CM000677.1:g.48521517C=	GRCh37
NC_000015.8:g.46308809C=	NCBI36
NG_021301.1:g.28020C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000686073.1:c.856C=	ENSP00000508901.1:p.Leu286=
ENST00000380993.8:c.856C= MANE Select	ENSP00000370381.3:p.Leu286=
ENST00000646012.1:c.994C=	ENSP00000495813.1:p.Leu332=
ENST00000647232.1:c.856C=	ENSP00000493875.1:p.Leu286=
ENST00000647546.1:c.856C=	ENSP00000495332.1:p.Leu286=
ENST00000330289.10:c.856C=	ENSP00000331550.6:p.Leu286=
ENST00000380993.7:c.856C=	ENSP00000370381.3:p.Leu286=
ENST00000396577.7:c.856C=	ENSP00000379822.3:p.Leu286=
ENST00000558252.5:n.4979C=
ENST00000558405.5:c.856C=	ENSP00000453409.1:p.Leu286=
ENST00000559641.5:c.295C=	ENSP00000453230.1:p.Leu99=
ENST00000559723.2:n.229C=
ENST00000560692.5:n.4995C=
ENST00000561127.5:c.295C=	ENSP00000453602.2:p.Leu99=
NM_000338.2:c.856C=	NP_000329.2:p.Leu286=
NM_001184832.1:c.856C=	NP_001171761.1:p.Leu286=
XM_005254605.1:c.952C=	XP_005254662.1:p.Leu318=
XM_005254606.1:c.856C=	XP_005254663.1:p.Leu286=
XM_006720656.1:c.952C=	XP_006720719.1:p.Leu318=
XR_931896.1:n.1168C=
XR_932203.1:n.229+636G=
XR_932204.1:n.222+636G=
XM_005254606.2:c.856C=	XP_005254663.1:p.Leu286=
XR_001751524.2:n.230+636G=
XR_001751525.1:n.230+636G=
XR_002957762.1:n.230+636G=
XR_932204.3:n.224+636G=
NM_000338.3:c.856C= MANE Select	NP_000329.2:p.Leu286=
NM_001184832.2:c.856C=	NP_001171761.1:p.Leu286=
NM_001384136.1:c.856C=	NP_001371065.1:p.Leu286=