Canonical Allele Identifier: CA375501589

Gene: KCNT1

Linked Data

• MyVariant Identifiers: chr9:g.138657560T>G (hg19) ; chr9:g.135765714T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.135765714T>G , CM000671.2:g.135765714T>G	GRCh38
NC_000009.11:g.138657560T>G , CM000671.1:g.138657560T>G	GRCh37
NC_000009.10:g.137797381T>G	NCBI36
NG_033070.1:g.68530T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371757.7:c.1291T>G MANE Select	ENSP00000360822.2:p.Tyr431Asp
ENST00000636995.1:n.18T>G
ENST00000637798.1:n.30T>G
ENST00000674572.1:c.1132T>G	ENSP00000501742.1:p.Tyr378Asp
ENST00000675090.1:c.1039T>G	ENSP00000501833.1:p.Tyr347Asp
ENST00000675399.1:c.1039T>G	ENSP00000501932.1:p.Tyr347Asp
ENST00000676421.1:c.1048T>G	ENSP00000502322.1:p.Tyr350Asp
ENST00000263604.5:c.1192T>G	ENSP00000263604.4:p.Tyr398Asp
ENST00000371757.6:c.1291T>G	ENSP00000360822.2:p.Tyr431Asp
ENST00000460750.5:c.*901T>G	ENSP00000418777.1:n.*901T>G
ENST00000486577.6:c.1174T>G	ENSP00000417578.3:p.Tyr392Asp
ENST00000487664.5:c.1291T>G	ENSP00000417851.2:p.Tyr431Asp
ENST00000488444.6:c.1234T>G	ENSP00000419007.3:p.Tyr412Asp
ENST00000490355.6:c.1234T>G	ENSP00000418003.3:p.Tyr412Asp
ENST00000490363.3:n.1110T>G
ENST00000491806.6:c.1234T>G	ENSP00000419086.3:p.Tyr412Asp
ENST00000628528.2:c.1156T>G	ENSP00000486374.1:p.Tyr386Asp
ENST00000630792.2:c.1132T>G	ENSP00000486486.1:p.Tyr378Asp
ENST00000631073.2:c.1234T>G	ENSP00000486130.1:p.Tyr412Asp
NM_001272003.1:c.1156T>G	NP_001258932.1:p.Tyr386Asp
NM_020822.2:c.1291T>G	NP_065873.2:p.Tyr431Asp
XM_011518877.1:c.1426T>G	XP_011517179.1:p.Tyr476Asp
XM_011518878.1:c.1435T>G	XP_011517180.1:p.Tyr479Asp
XM_011518879.1:c.1426T>G	XP_011517181.1:p.Tyr476Asp
XM_011518880.1:c.1192T>G	XP_011517182.1:p.Tyr398Asp
XM_011518881.1:c.781T>G	XP_011517183.1:p.Tyr261Asp
XM_011518877.3:c.1426T>G	XP_011517179.1:p.Tyr476Asp
XM_011518878.3:c.1435T>G	XP_011517180.1:p.Tyr479Asp
XM_011518879.3:c.1426T>G	XP_011517181.1:p.Tyr476Asp
XM_011518881.3:c.781T>G	XP_011517183.1:p.Tyr261Asp
XM_017014931.1:c.1225T>G	XP_016870420.1:p.Tyr409Asp
XM_017014932.1:c.1048T>G	XP_016870421.1:p.Tyr350Asp
XM_017014933.1:c.781T>G	XP_016870422.1:p.Tyr261Asp
XM_024447617.1:c.781T>G	XP_024303385.1:p.Tyr261Asp
XM_024447618.1:c.781T>G	XP_024303386.1:p.Tyr261Asp
NM_020822.3:c.1291T>G MANE Select	NP_065873.2:p.Tyr431Asp
NM_001272003.2:c.1156T>G	NP_001258932.1:p.Tyr386Asp