Canonical Allele Identifier: CA392306855

Gene: SLC12A1

Linked Data

• gnomAD v4: 15-48229220-A-T
• MyVariant Identifiers: chr15:g.48521417A>T (hg19) ; chr15:g.48229220A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48229220A>T , CM000677.2:g.48229220A>T	GRCh38
NC_000015.9:g.48521417A>T , CM000677.1:g.48521417A>T	GRCh37
NC_000015.8:g.46308709A>T	NCBI36
NG_021301.1:g.27920A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000686073.1:c.756A>T	ENSP00000508901.1:p.Leu252Phe
ENST00000380993.8:c.756A>T MANE Select	ENSP00000370381.3:p.Leu252Phe
ENST00000646012.1:c.894A>T	ENSP00000495813.1:p.Leu298Phe
ENST00000647232.1:c.756A>T	ENSP00000493875.1:p.Leu252Phe
ENST00000647546.1:c.756A>T	ENSP00000495332.1:p.Leu252Phe
ENST00000330289.10:c.756A>T	ENSP00000331550.6:p.Leu252Phe
ENST00000380993.7:c.756A>T	ENSP00000370381.3:p.Leu252Phe
ENST00000396577.7:c.756A>T	ENSP00000379822.3:p.Leu252Phe
ENST00000558252.5:n.4879A>T
ENST00000558405.5:c.756A>T	ENSP00000453409.1:p.Leu252Phe
ENST00000559641.5:c.195A>T	ENSP00000453230.1:p.Leu65Phe
ENST00000559723.2:n.129A>T
ENST00000560692.5:n.4895A>T
ENST00000561127.5:c.195A>T	ENSP00000453602.2:p.Leu65Phe
NM_000338.2:c.756A>T	NP_000329.2:p.Leu252Phe
NM_001184832.1:c.756A>T	NP_001171761.1:p.Leu252Phe
XM_005254605.1:c.852A>T	XP_005254662.1:p.Leu284Phe
XM_005254606.1:c.756A>T	XP_005254663.1:p.Leu252Phe
XM_006720656.1:c.852A>T	XP_006720719.1:p.Leu284Phe
XR_931896.1:n.1068A>T
XR_932203.1:n.229+736T>A
XR_932204.1:n.222+736T>A
XM_005254606.2:c.756A>T	XP_005254663.1:p.Leu252Phe
XR_001751524.2:n.230+736T>A
XR_001751525.1:n.230+736T>A
XR_002957762.1:n.230+736T>A
XR_932204.3:n.224+736T>A
NM_000338.3:c.756A>T MANE Select	NP_000329.2:p.Leu252Phe
NM_001184832.2:c.756A>T	NP_001171761.1:p.Leu252Phe
NM_001384136.1:c.756A>T	NP_001371065.1:p.Leu252Phe