Canonical Allele Identifier: CA353561670
Gene: MITF HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.69951883C>G , CM000665.2:g.69951883C>G GRCh38
NC_000003.11:g.70001034C>G , CM000665.1:g.70001034C>G GRCh37
NC_000003.10:g.70083724C>G NCBI36
NG_011631.1:g.217402C>G , LRG_776:g.217402C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000314589.11:c.886C>G ENSP00000324443.5:p.Leu296Val
ENST00000687384.1:c.883C>G ENSP00000510225.1:p.Leu295Val
ENST00000689390.1:n.1108C>G
ENST00000693031.1:c.859C>G ENSP00000509845.1:p.Leu287Val
ENST00000693549.1:c.886C>G ENSP00000509358.1:p.Leu296Val
ENST00000314589.10:c.886C>G ENSP00000324443.5:p.Leu296Val
ENST00000352241.9:c.952C>G MANE Select ENSP00000295600.8:p.Leu318Val
ENST00000394351.9:c.631C>G MANE Plus Clinical ENSP00000377880.3:p.Leu211Val
ENST00000448226.9:c.931C>G ENSP00000391803.3:p.Leu311Val
ENST00000642352.1:c.934C>G ENSP00000494105.1:p.Leu312Val
ENST00000314557.10:c.613C>G ENSP00000324246.6:p.Leu205Val
ENST00000314589.9:c.886C>G ENSP00000324443.5:p.Leu296Val
ENST00000328528.10:c.931C>G ENSP00000327867.6:p.Leu311Val
ENST00000352241.8:c.934C>G ENSP00000295600.7:p.Leu312Val
ENST00000394351.7:c.631C>G ENSP00000377880.3:p.Leu211Val
ENST00000448226.6:c.952C>G ENSP00000391803.2:p.Leu318Val
ENST00000451708.5:c.904C>G ENSP00000398639.1:p.Leu302Val
ENST00000472437.5:c.778C>G ENSP00000418845.1:p.Leu260Val
ENST00000478490.5:c.*278C>G ENSP00000433487.1:n.*278C>G
ENST00000531774.1:c.445C>G ENSP00000435909.1:p.Leu149Val
NM_000248.3:c.631C>G , LRG_776t1:c.631C>G NP_000239.1:p.Leu211Val
NM_001184967.1:c.778C>G NP_001171896.1:p.Leu260Val
NM_006722.2:c.931C>G NP_006713.1:p.Leu311Val
NM_198158.2:c.613C>G NP_937801.1:p.Leu205Val
NM_198159.2:c.934C>G NP_937802.1:p.Leu312Val
NM_198177.2:c.886C>G NP_937820.1:p.Leu296Val
NM_198178.2:c.445C>G NP_937821.2:p.Leu149Val
XM_005264754.1:c.952C>G XP_005264811.1:p.Leu318Val
XM_005264755.2:c.904C>G XP_005264812.1:p.Leu302Val
XM_006713164.2:c.796C>G XP_006713227.1:p.Leu266Val
XM_011533722.1:c.949C>G XP_011532024.1:p.Leu317Val
XM_011533723.1:c.901C>G XP_011532025.1:p.Leu301Val
XM_011533724.1:c.796C>G XP_011532026.1:p.Leu266Val
XM_011533725.1:c.784C>G XP_011532027.1:p.Leu262Val
XM_011533726.1:c.766C>G XP_011532028.1:p.Leu256Val
NM_001354604.1:c.952C>G NP_001341533.1:p.Leu318Val
NM_001354605.1:c.949C>G NP_001341534.1:p.Leu317Val
NM_001354606.1:c.931C>G NP_001341535.1:p.Leu311Val
NM_001354607.1:c.883C>G NP_001341536.1:p.Leu295Val
NM_001354608.1:c.778C>G NP_001341537.1:p.Leu260Val
NM_001184967.2:c.778C>G NP_001171896.1:p.Leu260Val
NM_001354604.2:c.952C>G MANE Select NP_001341533.1:p.Leu318Val
NM_001354605.2:c.949C>G NP_001341534.1:p.Leu317Val
NM_001354606.2:c.931C>G NP_001341535.1:p.Leu311Val
NM_001354607.2:c.883C>G NP_001341536.1:p.Leu295Val
NM_001354608.2:c.778C>G NP_001341537.1:p.Leu260Val
NM_198158.3:c.613C>G NP_937801.1:p.Leu205Val
NM_198159.3:c.934C>G NP_937802.1:p.Leu312Val
NM_198177.3:c.886C>G NP_937820.1:p.Leu296Val
NM_198178.3:c.445C>G NP_937821.2:p.Leu149Val
NM_000248.4:c.631C>G MANE Plus Clinical NP_000239.1:p.Leu211Val
NM_006722.3:c.931C>G NP_006713.1:p.Leu311Val