Canonical Allele Identifier: CA353559389
Gene: MITF HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.69964888T>G , CM000665.2:g.69964888T>G GRCh38
NC_000003.11:g.70014039T>G , CM000665.1:g.70014039T>G GRCh37
NC_000003.10:g.70096729T>G NCBI36
NG_011631.1:g.230407T>G , LRG_776:g.230407T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000314589.11:c.1155T>G ENSP00000324443.5:p.Ile385Met
ENST00000687384.1:c.1152T>G ENSP00000510225.1:p.Ile384Met
ENST00000689390.1:n.1377T>G
ENST00000693031.1:c.1128T>G ENSP00000509845.1:p.Ile376Met
ENST00000693549.1:c.1114-26T>G ENSP00000509358.1:n.1114-26T>G
ENST00000314589.10:c.1155T>G ENSP00000324443.5:p.Ile385Met
ENST00000352241.9:c.1221T>G MANE Select ENSP00000295600.8:p.Ile407Met
ENST00000394351.9:c.900T>G MANE Plus Clinical ENSP00000377880.3:p.Ile300Met
ENST00000448226.9:c.1200T>G ENSP00000391803.3:p.Ile400Met
ENST00000642352.1:c.1203T>G ENSP00000494105.1:p.Ile401Met
ENST00000314557.10:c.882T>G ENSP00000324246.6:p.Ile294Met
ENST00000314589.9:c.1155T>G ENSP00000324443.5:p.Ile385Met
ENST00000328528.10:c.1200T>G ENSP00000327867.6:p.Ile400Met
ENST00000352241.8:c.1203T>G ENSP00000295600.7:p.Ile401Met
ENST00000394351.7:c.900T>G ENSP00000377880.3:p.Ile300Met
ENST00000448226.6:c.1221T>G ENSP00000391803.2:p.Ile407Met
ENST00000472437.5:c.1047T>G ENSP00000418845.1:p.Ile349Met
ENST00000478490.5:c.*547T>G ENSP00000433487.1:n.*547T>G
ENST00000531774.1:c.714T>G ENSP00000435909.1:p.Ile238Met
NM_000248.3:c.900T>G , LRG_776t1:c.900T>G NP_000239.1:p.Ile300Met
NM_001184967.1:c.1047T>G NP_001171896.1:p.Ile349Met
NM_006722.2:c.1200T>G NP_006713.1:p.Ile400Met
NM_198158.2:c.882T>G NP_937801.1:p.Ile294Met
NM_198159.2:c.1203T>G NP_937802.1:p.Ile401Met
NM_198177.2:c.1155T>G NP_937820.1:p.Ile385Met
NM_198178.2:c.714T>G NP_937821.2:p.Ile238Met
XM_005264754.1:c.1221T>G XP_005264811.1:p.Ile407Met
XM_005264755.2:c.1173T>G XP_005264812.1:p.Ile391Met
XM_006713164.2:c.1065T>G XP_006713227.1:p.Ile355Met
XM_011533722.1:c.1218T>G XP_011532024.1:p.Ile406Met
XM_011533723.1:c.1170T>G XP_011532025.1:p.Ile390Met
XM_011533724.1:c.1065T>G XP_011532026.1:p.Ile355Met
XM_011533725.1:c.1053T>G XP_011532027.1:p.Ile351Met
XM_011533726.1:c.1035T>G XP_011532028.1:p.Ile345Met
NM_001354604.1:c.1221T>G NP_001341533.1:p.Ile407Met
NM_001354605.1:c.1218T>G NP_001341534.1:p.Ile406Met
NM_001354606.1:c.1200T>G NP_001341535.1:p.Ile400Met
NM_001354607.1:c.1152T>G NP_001341536.1:p.Ile384Met
NM_001354608.1:c.1047T>G NP_001341537.1:p.Ile349Met
NM_001184967.2:c.1047T>G NP_001171896.1:p.Ile349Met
NM_001354604.2:c.1221T>G MANE Select NP_001341533.1:p.Ile407Met
NM_001354605.2:c.1218T>G NP_001341534.1:p.Ile406Met
NM_001354606.2:c.1200T>G NP_001341535.1:p.Ile400Met
NM_001354607.2:c.1152T>G NP_001341536.1:p.Ile384Met
NM_001354608.2:c.1047T>G NP_001341537.1:p.Ile349Met
NM_198158.3:c.882T>G NP_937801.1:p.Ile294Met
NM_198159.3:c.1203T>G NP_937802.1:p.Ile401Met
NM_198177.3:c.1155T>G NP_937820.1:p.Ile385Met
NM_198178.3:c.714T>G NP_937821.2:p.Ile238Met
NM_000248.4:c.900T>G MANE Plus Clinical NP_000239.1:p.Ile300Met
NM_006722.3:c.1200T>G NP_006713.1:p.Ile400Met