Canonical Allele Identifier: CA1373413911
Gene: MITF HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.69964883C= , CM000665.2:g.69964883C= GRCh38
NC_000003.11:g.70014034C= , CM000665.1:g.70014034C= GRCh37
NC_000003.10:g.70096724C= NCBI36
NG_011631.1:g.230402C= , LRG_776:g.230402C=

Transcript Alleles

HGVS Amino-acid change
ENST00000314589.11:c.1150C= ENSP00000324443.5:p.Leu384=
ENST00000687384.1:c.1147C= ENSP00000510225.1:p.Leu383=
ENST00000689390.1:n.1372C=
ENST00000693031.1:c.1123C= ENSP00000509845.1:p.Leu375=
ENST00000693549.1:c.1114-31C= ENSP00000509358.1:n.1114-31C=
ENST00000314589.10:c.1150C= ENSP00000324443.5:p.Leu384=
ENST00000352241.9:c.1216C= MANE Select ENSP00000295600.8:p.Leu406=
ENST00000394351.9:c.895C= MANE Plus Clinical ENSP00000377880.3:p.Leu299=
ENST00000448226.9:c.1195C= ENSP00000391803.3:p.Leu399=
ENST00000642352.1:c.1198C= ENSP00000494105.1:p.Leu400=
ENST00000314557.10:c.877C= ENSP00000324246.6:p.Leu293=
ENST00000314589.9:c.1150C= ENSP00000324443.5:p.Leu384=
ENST00000328528.10:c.1195C= ENSP00000327867.6:p.Leu399=
ENST00000352241.8:c.1198C= ENSP00000295600.7:p.Leu400=
ENST00000394351.7:c.895C= ENSP00000377880.3:p.Leu299=
ENST00000448226.6:c.1216C= ENSP00000391803.2:p.Leu406=
ENST00000472437.5:c.1042C= ENSP00000418845.1:p.Leu348=
ENST00000478490.5:c.*542C= ENSP00000433487.1:n.*542C=
ENST00000531774.1:c.709C= ENSP00000435909.1:p.Leu237=
NM_000248.3:c.895C= , LRG_776t1:c.895C= NP_000239.1:p.Leu299=
NM_001184967.1:c.1042C= NP_001171896.1:p.Leu348=
NM_006722.2:c.1195C= NP_006713.1:p.Leu399=
NM_198158.2:c.877C= NP_937801.1:p.Leu293=
NM_198159.2:c.1198C= NP_937802.1:p.Leu400=
NM_198177.2:c.1150C= NP_937820.1:p.Leu384=
NM_198178.2:c.709C= NP_937821.2:p.Leu237=
XM_005264754.1:c.1216C= XP_005264811.1:p.Leu406=
XM_005264755.2:c.1168C= XP_005264812.1:p.Leu390=
XM_006713164.2:c.1060C= XP_006713227.1:p.Leu354=
XM_011533722.1:c.1213C= XP_011532024.1:p.Leu405=
XM_011533723.1:c.1165C= XP_011532025.1:p.Leu389=
XM_011533724.1:c.1060C= XP_011532026.1:p.Leu354=
XM_011533725.1:c.1048C= XP_011532027.1:p.Leu350=
XM_011533726.1:c.1030C= XP_011532028.1:p.Leu344=
NM_001354604.1:c.1216C= NP_001341533.1:p.Leu406=
NM_001354605.1:c.1213C= NP_001341534.1:p.Leu405=
NM_001354606.1:c.1195C= NP_001341535.1:p.Leu399=
NM_001354607.1:c.1147C= NP_001341536.1:p.Leu383=
NM_001354608.1:c.1042C= NP_001341537.1:p.Leu348=
NM_001184967.2:c.1042C= NP_001171896.1:p.Leu348=
NM_001354604.2:c.1216C= MANE Select NP_001341533.1:p.Leu406=
NM_001354605.2:c.1213C= NP_001341534.1:p.Leu405=
NM_001354606.2:c.1195C= NP_001341535.1:p.Leu399=
NM_001354607.2:c.1147C= NP_001341536.1:p.Leu383=
NM_001354608.2:c.1042C= NP_001341537.1:p.Leu348=
NM_198158.3:c.877C= NP_937801.1:p.Leu293=
NM_198159.3:c.1198C= NP_937802.1:p.Leu400=
NM_198177.3:c.1150C= NP_937820.1:p.Leu384=
NM_198178.3:c.709C= NP_937821.2:p.Leu237=
NM_000248.4:c.895C= MANE Plus Clinical NP_000239.1:p.Leu299=
NM_006722.3:c.1195C= NP_006713.1:p.Leu399=