Canonical Allele Identifier: CA1458760637

Gene: KIT

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.54727225C= , CM000666.2:g.54727225C=	GRCh38
NC_000004.11:g.55593391C= , CM000666.1:g.55593391C=	GRCh37
NC_000004.10:g.55288148C=	NCBI36
NG_007456.1:g.74231C= , LRG_307:g.74231C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000412167.7:c.1539C=	ENSP00000390987.3:p.Ile513=
ENST00000685269.1:n.1626C=
ENST00000686011.1:c.1536C=	ENSP00000509704.1:p.Ile512=
ENST00000687109.1:c.1551C=	ENSP00000509371.1:p.Ile517=
ENST00000687208.1:n.1963C=
ENST00000687246.1:c.1536C=	ENSP00000509114.1:p.Ile512=
ENST00000687265.1:n.1706C=
ENST00000687295.1:c.1536C=	ENSP00000509450.1:p.Ile512=
ENST00000689832.1:c.1551C=	ENSP00000509084.1:p.Ile517=
ENST00000689994.1:c.1038C=	ENSP00000509156.1:p.Ile346=
ENST00000690543.1:c.1539C=	ENSP00000508831.1:p.Ile513=
ENST00000690917.1:n.1766C=
ENST00000691361.1:n.458C=
ENST00000692783.1:c.1548C=	ENSP00000508733.1:p.Ile516=
ENST00000692991.1:n.1645C=
ENST00000288135.6:c.1548C= MANE Select	ENSP00000288135.6:p.Ile516=
ENST00000288135.5:c.1548C=	ENSP00000288135.5:p.Ile516=
ENST00000412167.6:c.1536C=	ENSP00000390987.2:p.Ile512=
NM_000222.2:c.1548C= , LRG_307t1:c.1548C=	NP_000213.1:p.Ile516=
NM_001093772.1:c.1536C=	NP_001087241.1:p.Ile512=
XM_005265740.1:c.1551C=	XP_005265797.1:p.Ile517=
XM_005265741.1:c.1551C=	XP_005265798.1:p.Ile517=
XM_005265742.1:c.1539C=	XP_005265799.1:p.Ile513=
XM_005265742.3:c.1539C=	XP_005265799.1:p.Ile513=
XM_017008178.1:c.1548C=	XP_016863667.1:p.Ile516=
XM_017008179.1:c.1539C=	XP_016863668.1:p.Ile513=
XM_017008180.1:c.1536C=	XP_016863669.1:p.Ile512=
NM_000222.3:c.1548C= MANE Select	NP_000213.1:p.Ile516=
NM_001093772.2:c.1536C=	NP_001087241.1:p.Ile512=
NM_001385284.1:c.1551C=	NP_001372213.1:p.Ile517=
NM_001385285.1:c.1548C=	NP_001372214.1:p.Ile516=
NM_001385286.1:c.1536C=	NP_001372215.1:p.Ile512=
NM_001385288.1:c.1539C=	NP_001372217.1:p.Ile513=
NM_001385290.1:c.1551C=	NP_001372219.1:p.Ile517=
NM_001385292.1:c.1539C=	NP_001372221.1:p.Ile513=