Canonical Allele Identifier: CA216082

Gene: SLC12A1

Linked Data

• ClinVar Variation Id: 64410
• ClinVar RCV Id: RCV000054597
• dbSNP Id: rs387907468
• ExAC: 15:48500302 C / T
• gnomAD v2: 15-48500302-C-T
• gnomAD v4: 15-48208105-C-T
• MyVariant Identifiers: chr15:g.48500302C>T (hg19) ; chr15:g.48208105C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48208105C>T , CM000677.2:g.48208105C>T	GRCh38
NC_000015.9:g.48500302C>T , CM000677.1:g.48500302C>T	GRCh37
NC_000015.8:g.46287594C>T	NCBI36
NG_021301.1:g.6805C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686073.1:c.386C>T	ENSP00000508901.1:p.Pro129Leu
ENST00000380993.8:c.386C>T MANE Select	ENSP00000370381.3:p.Pro129Leu
ENST00000646012.1:c.386C>T	ENSP00000495813.1:p.Pro129Leu
ENST00000647232.1:c.386C>T	ENSP00000493875.1:p.Pro129Leu
ENST00000647546.1:c.386C>T	ENSP00000495332.1:p.Pro129Leu
ENST00000330289.10:c.386C>T	ENSP00000331550.6:p.Pro129Leu
ENST00000380993.7:c.386C>T	ENSP00000370381.3:p.Pro129Leu
ENST00000396577.7:c.386C>T	ENSP00000379822.3:p.Pro129Leu
ENST00000558405.5:c.386C>T	ENSP00000453409.1:p.Pro129Leu
ENST00000559641.5:c.-141-12529C>T	ENSP00000453230.1:n.-141-12529C>T
ENST00000561031.1:c.386C>T	ENSP00000454178.1:p.Pro129Leu
ENST00000561127.5:c.-133-12529C>T	ENSP00000453602.2:n.-133-12529C>T
NM_000338.2:c.386C>T	NP_000329.2:p.Pro129Leu
NM_001184832.1:c.386C>T	NP_001171761.1:p.Pro129Leu
XM_005254605.1:c.386C>T	XP_005254662.1:p.Pro129Leu
XM_005254606.1:c.386C>T	XP_005254663.1:p.Pro129Leu
XM_006720656.1:c.386C>T	XP_006720719.1:p.Pro129Leu
XR_931896.1:n.602C>T
XM_005254606.2:c.386C>T	XP_005254663.1:p.Pro129Leu
NM_000338.3:c.386C>T MANE Select	NP_000329.2:p.Pro129Leu
NM_001184832.2:c.386C>T	NP_001171761.1:p.Pro129Leu
NM_001384136.1:c.386C>T	NP_001371065.1:p.Pro129Leu