Canonical Allele Identifier: CA1373413958
Gene: MITF HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.69964916T= , CM000665.2:g.69964916T= GRCh38
NC_000003.11:g.70014067T= , CM000665.1:g.70014067T= GRCh37
NC_000003.10:g.70096757T= NCBI36
NG_011631.1:g.230435T= , LRG_776:g.230435T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000314589.11:c.1183T= ENSP00000324443.5:p.Leu395=
ENST00000687384.1:c.1180T= ENSP00000510225.1:p.Leu394=
ENST00000689390.1:n.1405T=
ENST00000693031.1:c.1156T= ENSP00000509845.1:p.Leu386=
ENST00000693549.1:c.1116T= ENSP00000509358.1:p.Ile372=
ENST00000314589.10:c.1183T= ENSP00000324443.5:p.Leu395=
ENST00000352241.9:c.1249T= MANE Select ENSP00000295600.8:p.Leu417=
ENST00000394351.9:c.928T= MANE Plus Clinical ENSP00000377880.3:p.Leu310=
ENST00000448226.9:c.1228T= ENSP00000391803.3:p.Leu410=
ENST00000642352.1:c.1231T= ENSP00000494105.1:p.Leu411=
ENST00000314557.10:c.910T= ENSP00000324246.6:p.Leu304=
ENST00000314589.9:c.1183T= ENSP00000324443.5:p.Leu395=
ENST00000328528.10:c.1228T= ENSP00000327867.6:p.Leu410=
ENST00000352241.8:c.1231T= ENSP00000295600.7:p.Leu411=
ENST00000394351.7:c.928T= ENSP00000377880.3:p.Leu310=
ENST00000448226.6:c.1249T= ENSP00000391803.2:p.Leu417=
ENST00000472437.5:c.1075T= ENSP00000418845.1:p.Leu359=
ENST00000478490.5:c.*575T= ENSP00000433487.1:n.*575T=
ENST00000531774.1:c.742T= ENSP00000435909.1:p.Leu248=
NM_000248.3:c.928T= , LRG_776t1:c.928T= NP_000239.1:p.Leu310=
NM_001184967.1:c.1075T= NP_001171896.1:p.Leu359=
NM_006722.2:c.1228T= NP_006713.1:p.Leu410=
NM_198158.2:c.910T= NP_937801.1:p.Leu304=
NM_198159.2:c.1231T= NP_937802.1:p.Leu411=
NM_198177.2:c.1183T= NP_937820.1:p.Leu395=
NM_198178.2:c.742T= NP_937821.2:p.Leu248=
XM_005264754.1:c.1249T= XP_005264811.1:p.Leu417=
XM_005264755.2:c.1201T= XP_005264812.1:p.Leu401=
XM_006713164.2:c.1093T= XP_006713227.1:p.Leu365=
XM_011533722.1:c.1246T= XP_011532024.1:p.Leu416=
XM_011533723.1:c.1198T= XP_011532025.1:p.Leu400=
XM_011533724.1:c.1093T= XP_011532026.1:p.Leu365=
XM_011533725.1:c.1081T= XP_011532027.1:p.Leu361=
XM_011533726.1:c.1063T= XP_011532028.1:p.Leu355=
NM_001354604.1:c.1249T= NP_001341533.1:p.Leu417=
NM_001354605.1:c.1246T= NP_001341534.1:p.Leu416=
NM_001354606.1:c.1228T= NP_001341535.1:p.Leu410=
NM_001354607.1:c.1180T= NP_001341536.1:p.Leu394=
NM_001354608.1:c.1075T= NP_001341537.1:p.Leu359=
NM_001184967.2:c.1075T= NP_001171896.1:p.Leu359=
NM_001354604.2:c.1249T= MANE Select NP_001341533.1:p.Leu417=
NM_001354605.2:c.1246T= NP_001341534.1:p.Leu416=
NM_001354606.2:c.1228T= NP_001341535.1:p.Leu410=
NM_001354607.2:c.1180T= NP_001341536.1:p.Leu394=
NM_001354608.2:c.1075T= NP_001341537.1:p.Leu359=
NM_198158.3:c.910T= NP_937801.1:p.Leu304=
NM_198159.3:c.1231T= NP_937802.1:p.Leu411=
NM_198177.3:c.1183T= NP_937820.1:p.Leu395=
NM_198178.3:c.742T= NP_937821.2:p.Leu248=
NM_000248.4:c.928T= MANE Plus Clinical NP_000239.1:p.Leu310=
NM_006722.3:c.1228T= NP_006713.1:p.Leu410=