Canonical Allele Identifier: CA392305552

Gene: SLC12A1

Linked Data

• MyVariant Identifiers: chr15:g.48518728G>C (hg19) ; chr15:g.48226531G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48226531G>C , CM000677.2:g.48226531G>C	GRCh38
NC_000015.9:g.48518728G>C , CM000677.1:g.48518728G>C	GRCh37
NC_000015.8:g.46306020G>C	NCBI36
NG_021301.1:g.25231G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686073.1:c.724+584G>C	ENSP00000508901.1:n.724+584G>C
ENST00000380993.8:c.684G>C MANE Select	ENSP00000370381.3:p.Leu228Phe
ENST00000646012.1:c.822G>C	ENSP00000495813.1:p.Leu274Phe
ENST00000647232.1:c.629-548G>C	ENSP00000493875.1:n.629-548G>C
ENST00000647546.1:c.684G>C	ENSP00000495332.1:p.Leu228Phe
ENST00000330289.10:c.684G>C	ENSP00000331550.6:p.Leu228Phe
ENST00000380993.7:c.684G>C	ENSP00000370381.3:p.Leu228Phe
ENST00000396577.7:c.629-548G>C	ENSP00000379822.3:n.629-548G>C
ENST00000558252.5:n.4204G>C
ENST00000558405.5:c.684G>C	ENSP00000453409.1:p.Leu228Phe
ENST00000559641.5:c.123G>C	ENSP00000453230.1:p.Leu41Phe
ENST00000559723.2:n.97+584G>C
ENST00000560692.5:n.2206G>C
ENST00000561127.5:c.123G>C	ENSP00000453602.2:p.Leu41Phe
NM_000338.2:c.684G>C	NP_000329.2:p.Leu228Phe
NM_001184832.1:c.629-548G>C	NP_001171761.1:n.629-548G>C
XM_005254605.1:c.684G>C	XP_005254662.1:p.Leu228Phe
XM_005254606.1:c.724+584G>C	XP_005254663.1:n.724+584G>C
XM_006720656.1:c.684G>C	XP_006720719.1:p.Leu228Phe
XR_931896.1:n.900G>C
XM_005254606.2:c.724+584G>C	XP_005254663.1:n.724+584G>C
XR_001751524.2:n.363+930C>G
XR_001751525.1:n.363+930C>G
XR_002957762.1:n.363+930C>G
XR_932204.3:n.357+930C>G
NM_000338.3:c.684G>C MANE Select	NP_000329.2:p.Leu228Phe
NM_001184832.2:c.629-548G>C	NP_001171761.1:n.629-548G>C
NM_001384136.1:c.724+584G>C	NP_001371065.1:n.724+584G>C