Canonical Allele Identifier: CA392307214

Gene: SLC12A1

Linked Data

• MyVariant Identifiers: chr15:g.48521502G>C (hg19) ; chr15:g.48229305G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48229305G>C , CM000677.2:g.48229305G>C	GRCh38
NC_000015.9:g.48521502G>C , CM000677.1:g.48521502G>C	GRCh37
NC_000015.8:g.46308794G>C	NCBI36
NG_021301.1:g.28005G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686073.1:c.841G>C	ENSP00000508901.1:p.Glu281Gln
ENST00000380993.8:c.841G>C MANE Select	ENSP00000370381.3:p.Glu281Gln
ENST00000646012.1:c.979G>C	ENSP00000495813.1:p.Glu327Gln
ENST00000647232.1:c.841G>C	ENSP00000493875.1:p.Glu281Gln
ENST00000647546.1:c.841G>C	ENSP00000495332.1:p.Glu281Gln
ENST00000330289.10:c.841G>C	ENSP00000331550.6:p.Glu281Gln
ENST00000380993.7:c.841G>C	ENSP00000370381.3:p.Glu281Gln
ENST00000396577.7:c.841G>C	ENSP00000379822.3:p.Glu281Gln
ENST00000558252.5:n.4964G>C
ENST00000558405.5:c.841G>C	ENSP00000453409.1:p.Glu281Gln
ENST00000559641.5:c.280G>C	ENSP00000453230.1:p.Glu94Gln
ENST00000559723.2:n.214G>C
ENST00000560692.5:n.4980G>C
ENST00000561127.5:c.280G>C	ENSP00000453602.2:p.Glu94Gln
NM_000338.2:c.841G>C	NP_000329.2:p.Glu281Gln
NM_001184832.1:c.841G>C	NP_001171761.1:p.Glu281Gln
XM_005254605.1:c.937G>C	XP_005254662.1:p.Glu313Gln
XM_005254606.1:c.841G>C	XP_005254663.1:p.Glu281Gln
XM_006720656.1:c.937G>C	XP_006720719.1:p.Glu313Gln
XR_931896.1:n.1153G>C
XR_932203.1:n.229+651C>G
XR_932204.1:n.222+651C>G
XM_005254606.2:c.841G>C	XP_005254663.1:p.Glu281Gln
XR_001751524.2:n.230+651C>G
XR_001751525.1:n.230+651C>G
XR_002957762.1:n.230+651C>G
XR_932204.3:n.224+651C>G
NM_000338.3:c.841G>C MANE Select	NP_000329.2:p.Glu281Gln
NM_001184832.2:c.841G>C	NP_001171761.1:p.Glu281Gln
NM_001384136.1:c.841G>C	NP_001371065.1:p.Glu281Gln