Canonical Allele Identifier: CA392306944

Gene: SLC12A1

Linked Data

• MyVariant Identifiers: chr15:g.48521439A>T (hg19) ; chr15:g.48229242A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48229242A>T , CM000677.2:g.48229242A>T	GRCh38
NC_000015.9:g.48521439A>T , CM000677.1:g.48521439A>T	GRCh37
NC_000015.8:g.46308731A>T	NCBI36
NG_021301.1:g.27942A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000686073.1:c.778A>T	ENSP00000508901.1:p.Ile260Leu
ENST00000380993.8:c.778A>T MANE Select	ENSP00000370381.3:p.Ile260Leu
ENST00000646012.1:c.916A>T	ENSP00000495813.1:p.Ile306Leu
ENST00000647232.1:c.778A>T	ENSP00000493875.1:p.Ile260Leu
ENST00000647546.1:c.778A>T	ENSP00000495332.1:p.Ile260Leu
ENST00000330289.10:c.778A>T	ENSP00000331550.6:p.Ile260Leu
ENST00000380993.7:c.778A>T	ENSP00000370381.3:p.Ile260Leu
ENST00000396577.7:c.778A>T	ENSP00000379822.3:p.Ile260Leu
ENST00000558252.5:n.4901A>T
ENST00000558405.5:c.778A>T	ENSP00000453409.1:p.Ile260Leu
ENST00000559641.5:c.217A>T	ENSP00000453230.1:p.Ile73Leu
ENST00000559723.2:n.151A>T
ENST00000560692.5:n.4917A>T
ENST00000561127.5:c.217A>T	ENSP00000453602.2:p.Ile73Leu
NM_000338.2:c.778A>T	NP_000329.2:p.Ile260Leu
NM_001184832.1:c.778A>T	NP_001171761.1:p.Ile260Leu
XM_005254605.1:c.874A>T	XP_005254662.1:p.Ile292Leu
XM_005254606.1:c.778A>T	XP_005254663.1:p.Ile260Leu
XM_006720656.1:c.874A>T	XP_006720719.1:p.Ile292Leu
XR_931896.1:n.1090A>T
XR_932203.1:n.229+714T>A
XR_932204.1:n.222+714T>A
XM_005254606.2:c.778A>T	XP_005254663.1:p.Ile260Leu
XR_001751524.2:n.230+714T>A
XR_001751525.1:n.230+714T>A
XR_002957762.1:n.230+714T>A
XR_932204.3:n.224+714T>A
NM_000338.3:c.778A>T MANE Select	NP_000329.2:p.Ile260Leu
NM_001184832.2:c.778A>T	NP_001171761.1:p.Ile260Leu
NM_001384136.1:c.778A>T	NP_001371065.1:p.Ile260Leu