Canonical Allele Identifier: CA1458738896
Community Standard Title: NM_000222.3(KIT):c.1696A= (p.Asn566=)
Gene: KIT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.54727464A= , CM000666.2:g.54727464A= GRCh38
NC_000004.11:g.55593630A= , CM000666.1:g.55593630A= GRCh37
NC_000004.10:g.55288387A= NCBI36
NG_007456.1:g.74470A= , LRG_307:g.74470A=

Transcript Alleles

HGVS Amino-acid Change
NM_000222.3:c.1696A= MANE Select NP_000213.1:p.Asn566=
ENST00000288135.6:c.1696A= MANE Select ENSP00000288135.6:p.Asn566=
NM_000222.2:c.1696A= , LRG_307t1:c.1696A= NP_000213.1:p.Asn566=
NM_001093772.1:c.1684A= NP_001087241.1:p.Asn562=
NM_001093772.2:c.1684A= NP_001087241.1:p.Asn562=
NM_001385284.1:c.1699A= NP_001372213.1:p.Asn567=
NM_001385285.1:c.1696A= NP_001372214.1:p.Asn566=
NM_001385286.1:c.1684A= NP_001372215.1:p.Asn562=
NM_001385288.1:c.1687A= NP_001372217.1:p.Asn563=
NM_001385290.1:c.1699A= NP_001372219.1:p.Asn567=
NM_001385292.1:c.1687A= NP_001372221.1:p.Asn563=
ENST00000288135.5:c.1696A= ENSP00000288135.5:p.Asn566=
ENST00000412167.6:c.1684A= ENSP00000390987.2:p.Asn562=
ENST00000412167.7:c.1687A= ENSP00000390987.3:p.Asn563=
ENST00000685269.1:n.1774A=
ENST00000686011.1:c.1684A= ENSP00000509704.1:p.Asn562=
ENST00000687109.1:c.1699A= ENSP00000509371.1:p.Asn567=
ENST00000687208.1:n.2111A=
ENST00000687246.1:c.1684A= ENSP00000509114.1:p.Asn562=
ENST00000687265.1:n.1854A=
ENST00000687295.1:c.1684A= ENSP00000509450.1:p.Asn562=
ENST00000689832.1:c.1699A= ENSP00000509084.1:p.Asn567=
ENST00000689994.1:c.1186A= ENSP00000509156.1:p.Asn396=
ENST00000690543.1:c.1687A= ENSP00000508831.1:p.Asn563=
ENST00000690917.1:n.1914A=
ENST00000691361.1:n.606A=
ENST00000692783.1:c.1696A= ENSP00000508733.1:p.Asn566=
ENST00000692991.1:n.1793A=
XM_005265740.1:c.1699A= XP_005265797.1:p.Asn567=
XM_005265741.1:c.1699A= XP_005265798.1:p.Asn567=
XM_005265742.1:c.1687A= XP_005265799.1:p.Asn563=
XM_005265742.3:c.1687A= XP_005265799.1:p.Asn563=
XM_017008178.1:c.1696A= XP_016863667.1:p.Asn566=
XM_017008179.1:c.1687A= XP_016863668.1:p.Asn563=
XM_017008180.1:c.1684A= XP_016863669.1:p.Asn562=