Canonical Allele Identifier: CA392307017

Gene: SLC12A1

Linked Data

• MyVariant Identifiers: chr15:g.48521457T>C (hg19) ; chr15:g.48229260T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48229260T>C , CM000677.2:g.48229260T>C	GRCh38
NC_000015.9:g.48521457T>C , CM000677.1:g.48521457T>C	GRCh37
NC_000015.8:g.46308749T>C	NCBI36
NG_021301.1:g.27960T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686073.1:c.796T>C	ENSP00000508901.1:p.Phe266Leu
ENST00000380993.8:c.796T>C MANE Select	ENSP00000370381.3:p.Phe266Leu
ENST00000646012.1:c.934T>C	ENSP00000495813.1:p.Phe312Leu
ENST00000647232.1:c.796T>C	ENSP00000493875.1:p.Phe266Leu
ENST00000647546.1:c.796T>C	ENSP00000495332.1:p.Phe266Leu
ENST00000330289.10:c.796T>C	ENSP00000331550.6:p.Phe266Leu
ENST00000380993.7:c.796T>C	ENSP00000370381.3:p.Phe266Leu
ENST00000396577.7:c.796T>C	ENSP00000379822.3:p.Phe266Leu
ENST00000558252.5:n.4919T>C
ENST00000558405.5:c.796T>C	ENSP00000453409.1:p.Phe266Leu
ENST00000559641.5:c.235T>C	ENSP00000453230.1:p.Phe79Leu
ENST00000559723.2:n.169T>C
ENST00000560692.5:n.4935T>C
ENST00000561127.5:c.235T>C	ENSP00000453602.2:p.Phe79Leu
NM_000338.2:c.796T>C	NP_000329.2:p.Phe266Leu
NM_001184832.1:c.796T>C	NP_001171761.1:p.Phe266Leu
XM_005254605.1:c.892T>C	XP_005254662.1:p.Phe298Leu
XM_005254606.1:c.796T>C	XP_005254663.1:p.Phe266Leu
XM_006720656.1:c.892T>C	XP_006720719.1:p.Phe298Leu
XR_931896.1:n.1108T>C
XR_932203.1:n.229+696A>G
XR_932204.1:n.222+696A>G
XM_005254606.2:c.796T>C	XP_005254663.1:p.Phe266Leu
XR_001751524.2:n.230+696A>G
XR_001751525.1:n.230+696A>G
XR_002957762.1:n.230+696A>G
XR_932204.3:n.224+696A>G
NM_000338.3:c.796T>C MANE Select	NP_000329.2:p.Phe266Leu
NM_001184832.2:c.796T>C	NP_001171761.1:p.Phe266Leu
NM_001384136.1:c.796T>C	NP_001371065.1:p.Phe266Leu