Canonical Allele Identifier: CA392308592

Gene: SLC12A1

Linked Data

• dbSNP Id: rs1567314341
• MyVariant Identifiers: chr15:g.48527130T>C (hg19) ; chr15:g.48234933T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48234933T>C , CM000677.2:g.48234933T>C	GRCh38
NC_000015.9:g.48527130T>C , CM000677.1:g.48527130T>C	GRCh37
NC_000015.8:g.46314422T>C	NCBI36
NG_021301.1:g.33633T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000686073.1:c.1144T>C	ENSP00000508901.1:p.Ser382Pro
ENST00000380993.8:c.1144T>C MANE Select	ENSP00000370381.3:p.Ser382Pro
ENST00000646012.1:c.1282T>C	ENSP00000495813.1:p.Ser428Pro
ENST00000647232.1:c.1144T>C	ENSP00000493875.1:p.Ser382Pro
ENST00000647546.1:c.1144T>C	ENSP00000495332.1:p.Ser382Pro
ENST00000330289.10:c.1144T>C	ENSP00000331550.6:p.Ser382Pro
ENST00000380993.7:c.1144T>C	ENSP00000370381.3:p.Ser382Pro
ENST00000396577.7:c.1144T>C	ENSP00000379822.3:p.Ser382Pro
ENST00000558252.5:n.5267T>C
ENST00000558405.5:c.1144T>C	ENSP00000453409.1:p.Ser382Pro
ENST00000558805.1:c.171T>C
ENST00000559641.5:c.583T>C	ENSP00000453230.1:p.Ser195Pro
ENST00000560692.5:n.5283T>C
NM_000338.2:c.1144T>C	NP_000329.2:p.Ser382Pro
NM_001184832.1:c.1144T>C	NP_001171761.1:p.Ser382Pro
XM_005254605.1:c.1240T>C	XP_005254662.1:p.Ser414Pro
XM_005254606.1:c.1144T>C	XP_005254663.1:p.Ser382Pro
XM_006720656.1:c.1240T>C	XP_006720719.1:p.Ser414Pro
XR_931896.1:n.1456T>C
XM_005254606.2:c.1144T>C	XP_005254663.1:p.Ser382Pro
NM_000338.3:c.1144T>C MANE Select	NP_000329.2:p.Ser382Pro
NM_001184832.2:c.1144T>C	NP_001171761.1:p.Ser382Pro
NM_001384136.1:c.1144T>C	NP_001371065.1:p.Ser382Pro