Canonical Allele Identifier: CA356907427

Gene: KIT

Linked Data

• COSMIC: COSM1183
• MyVariant Identifiers: chr4:g.55593588A>C (hg19) ; chr4:g.54727422A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.54727422A>C , CM000666.2:g.54727422A>C	GRCh38
NC_000004.11:g.55593588A>C , CM000666.1:g.55593588A>C	GRCh37
NC_000004.10:g.55288345A>C	NCBI36
NG_007456.1:g.74428A>C , LRG_307:g.74428A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000412167.7:c.1645A>C	ENSP00000390987.3:p.Met549Leu
ENST00000685269.1:n.1732A>C
ENST00000686011.1:c.1642A>C	ENSP00000509704.1:p.Met548Leu
ENST00000687109.1:c.1657A>C	ENSP00000509371.1:p.Met553Leu
ENST00000687208.1:n.2069A>C
ENST00000687246.1:c.1642A>C	ENSP00000509114.1:p.Met548Leu
ENST00000687265.1:n.1812A>C
ENST00000687295.1:c.1642A>C	ENSP00000509450.1:p.Met548Leu
ENST00000689832.1:c.1657A>C	ENSP00000509084.1:p.Met553Leu
ENST00000689994.1:c.1144A>C	ENSP00000509156.1:p.Met382Leu
ENST00000690543.1:c.1645A>C	ENSP00000508831.1:p.Met549Leu
ENST00000690917.1:n.1872A>C
ENST00000691361.1:n.564A>C
ENST00000692783.1:c.1654A>C	ENSP00000508733.1:p.Met552Leu
ENST00000692991.1:n.1751A>C
ENST00000288135.6:c.1654A>C MANE Select	ENSP00000288135.6:p.Met552Leu
ENST00000288135.5:c.1654A>C	ENSP00000288135.5:p.Met552Leu
ENST00000412167.6:c.1642A>C	ENSP00000390987.2:p.Met548Leu
NM_000222.2:c.1654A>C , LRG_307t1:c.1654A>C	NP_000213.1:p.Met552Leu
NM_001093772.1:c.1642A>C	NP_001087241.1:p.Met548Leu
XM_005265740.1:c.1657A>C	XP_005265797.1:p.Met553Leu
XM_005265741.1:c.1657A>C	XP_005265798.1:p.Met553Leu
XM_005265742.1:c.1645A>C	XP_005265799.1:p.Met549Leu
XM_005265742.3:c.1645A>C	XP_005265799.1:p.Met549Leu
XM_017008178.1:c.1654A>C	XP_016863667.1:p.Met552Leu
XM_017008179.1:c.1645A>C	XP_016863668.1:p.Met549Leu
XM_017008180.1:c.1642A>C	XP_016863669.1:p.Met548Leu
NM_000222.3:c.1654A>C MANE Select	NP_000213.1:p.Met552Leu
NM_001093772.2:c.1642A>C	NP_001087241.1:p.Met548Leu
NM_001385284.1:c.1657A>C	NP_001372213.1:p.Met553Leu
NM_001385285.1:c.1654A>C	NP_001372214.1:p.Met552Leu
NM_001385286.1:c.1642A>C	NP_001372215.1:p.Met548Leu
NM_001385288.1:c.1645A>C	NP_001372217.1:p.Met549Leu
NM_001385290.1:c.1657A>C	NP_001372219.1:p.Met553Leu
NM_001385292.1:c.1645A>C	NP_001372221.1:p.Met549Leu