Canonical Allele Identifier: CA392307297

Gene: SLC12A1

Linked Data

• dbSNP Id: rs2041337955
• gnomAD v4: 15-48229323-C-A
• MyVariant Identifiers: chr15:g.48521520C>A (hg19) ; chr15:g.48229323C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48229323C>A , CM000677.2:g.48229323C>A	GRCh38
NC_000015.9:g.48521520C>A , CM000677.1:g.48521520C>A	GRCh37
NC_000015.8:g.46308812C>A	NCBI36
NG_021301.1:g.28023C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000686073.1:c.859C>A	ENSP00000508901.1:p.Leu287Ile
ENST00000380993.8:c.859C>A MANE Select	ENSP00000370381.3:p.Leu287Ile
ENST00000646012.1:c.997C>A	ENSP00000495813.1:p.Leu333Ile
ENST00000647232.1:c.859C>A	ENSP00000493875.1:p.Leu287Ile
ENST00000647546.1:c.859C>A	ENSP00000495332.1:p.Leu287Ile
ENST00000330289.10:c.859C>A	ENSP00000331550.6:p.Leu287Ile
ENST00000380993.7:c.859C>A	ENSP00000370381.3:p.Leu287Ile
ENST00000396577.7:c.859C>A	ENSP00000379822.3:p.Leu287Ile
ENST00000558252.5:n.4982C>A
ENST00000558405.5:c.859C>A	ENSP00000453409.1:p.Leu287Ile
ENST00000559641.5:c.298C>A	ENSP00000453230.1:p.Leu100Ile
ENST00000559723.2:n.232C>A
ENST00000560692.5:n.4998C>A
ENST00000561127.5:c.298C>A	ENSP00000453602.2:p.Leu100Ile
NM_000338.2:c.859C>A	NP_000329.2:p.Leu287Ile
NM_001184832.1:c.859C>A	NP_001171761.1:p.Leu287Ile
XM_005254605.1:c.955C>A	XP_005254662.1:p.Leu319Ile
XM_005254606.1:c.859C>A	XP_005254663.1:p.Leu287Ile
XM_006720656.1:c.955C>A	XP_006720719.1:p.Leu319Ile
XR_931896.1:n.1171C>A
XR_932203.1:n.229+633G>T
XR_932204.1:n.222+633G>T
XM_005254606.2:c.859C>A	XP_005254663.1:p.Leu287Ile
XR_001751524.2:n.230+633G>T
XR_001751525.1:n.230+633G>T
XR_002957762.1:n.230+633G>T
XR_932204.3:n.224+633G>T
NM_000338.3:c.859C>A MANE Select	NP_000329.2:p.Leu287Ile
NM_001184832.2:c.859C>A	NP_001171761.1:p.Leu287Ile
NM_001384136.1:c.859C>A	NP_001371065.1:p.Leu287Ile