Canonical Allele Identifier: CA375494724

Gene: KCNT1

Linked Data

• MyVariant Identifiers: chr9:g.138641961A>C (hg19) ; chr9:g.135750115A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.135750115A>C , CM000671.2:g.135750115A>C	GRCh38
NC_000009.11:g.138641961A>C , CM000671.1:g.138641961A>C	GRCh37
NC_000009.10:g.137781782A>C	NCBI36
NG_033070.1:g.52931A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371757.7:c.272A>C MANE Select	ENSP00000360822.2:p.Tyr91Ser
ENST00000637018.1:n.77A>C
ENST00000638123.1:n.7A>C
ENST00000674572.1:c.113A>C	ENSP00000501742.1:p.Tyr38Ser
ENST00000675090.1:c.20A>C	ENSP00000501833.1:p.Tyr7Ser
ENST00000675399.1:c.20A>C	ENSP00000501932.1:p.Tyr7Ser
ENST00000676421.1:c.20A>C	ENSP00000502322.1:p.Tyr7Ser
ENST00000263604.5:c.173A>C	ENSP00000263604.4:p.Tyr58Ser
ENST00000371757.6:c.272A>C	ENSP00000360822.2:p.Tyr91Ser
ENST00000460750.5:c.272A>C	ENSP00000418777.1:p.Tyr91Ser
ENST00000473941.5:c.113A>C	ENSP00000420764.1:p.Tyr38Ser
ENST00000486577.6:c.155A>C	ENSP00000417578.3:p.Tyr52Ser
ENST00000487664.5:c.272A>C	ENSP00000417851.2:p.Tyr91Ser
ENST00000488444.6:c.215A>C	ENSP00000419007.3:p.Tyr72Ser
ENST00000490355.6:c.215A>C	ENSP00000418003.3:p.Tyr72Ser
ENST00000491806.6:c.215A>C	ENSP00000419086.3:p.Tyr72Ser
ENST00000628528.2:c.128A>C	ENSP00000486374.1:p.Tyr43Ser
ENST00000630792.2:c.113A>C	ENSP00000486486.1:p.Tyr38Ser
ENST00000631073.2:c.215A>C	ENSP00000486130.1:p.Tyr72Ser
NM_001272003.1:c.128A>C	NP_001258932.1:p.Tyr43Ser
NM_020822.2:c.272A>C	NP_065873.2:p.Tyr91Ser
XM_011518877.1:c.407A>C	XP_011517179.1:p.Tyr136Ser
XM_011518878.1:c.407A>C	XP_011517180.1:p.Tyr136Ser
XM_011518879.1:c.407A>C	XP_011517181.1:p.Tyr136Ser
XM_011518880.1:c.173A>C	XP_011517182.1:p.Tyr58Ser
XM_011518877.3:c.407A>C	XP_011517179.1:p.Tyr136Ser
XM_011518878.3:c.407A>C	XP_011517180.1:p.Tyr136Ser
XM_011518879.3:c.407A>C	XP_011517181.1:p.Tyr136Ser
XM_017014931.1:c.297A>C	XP_016870420.1:p.Leu99=
XM_017014932.1:c.20A>C	XP_016870421.1:p.Tyr7Ser
XM_017014933.1:c.-148A>C	XP_016870422.1:n.-148A>C
XM_024447617.1:c.-248A>C	XP_024303385.1:n.-248A>C
XM_024447618.1:c.-248A>C	XP_024303386.1:n.-248A>C
NM_020822.3:c.272A>C MANE Select	NP_065873.2:p.Tyr91Ser
NM_001272003.2:c.128A>C	NP_001258932.1:p.Tyr43Ser