Canonical Allele Identifier: CA353559429

Gene: MITF

Linked Data

• ClinVar Variation Id: 2941268
• ClinVar RCV Id: RCV003792530
• MyVariant Identifiers: chr3:g.70014059C>A (hg19) ; chr3:g.69964908C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.69964908C>A , CM000665.2:g.69964908C>A	GRCh38
NC_000003.11:g.70014059C>A , CM000665.1:g.70014059C>A	GRCh37
NC_000003.10:g.70096749C>A	NCBI36
NG_011631.1:g.230427C>A , LRG_776:g.230427C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000314589.11:c.1175C>A	ENSP00000324443.5:p.Ser392Tyr
ENST00000687384.1:c.1172C>A	ENSP00000510225.1:p.Ser391Tyr
ENST00000689390.1:n.1397C>A
ENST00000693031.1:c.1148C>A	ENSP00000509845.1:p.Ser383Tyr
ENST00000693549.1:c.1114-6C>A	ENSP00000509358.1:n.1114-6C>A
ENST00000314589.10:c.1175C>A	ENSP00000324443.5:p.Ser392Tyr
ENST00000352241.9:c.1241C>A MANE Select	ENSP00000295600.8:p.Ser414Tyr
ENST00000394351.9:c.920C>A MANE Plus Clinical	ENSP00000377880.3:p.Ser307Tyr
ENST00000448226.9:c.1220C>A	ENSP00000391803.3:p.Ser407Tyr
ENST00000642352.1:c.1223C>A	ENSP00000494105.1:p.Ser408Tyr
ENST00000314557.10:c.902C>A	ENSP00000324246.6:p.Ser301Tyr
ENST00000314589.9:c.1175C>A	ENSP00000324443.5:p.Ser392Tyr
ENST00000328528.10:c.1220C>A	ENSP00000327867.6:p.Ser407Tyr
ENST00000352241.8:c.1223C>A	ENSP00000295600.7:p.Ser408Tyr
ENST00000394351.7:c.920C>A	ENSP00000377880.3:p.Ser307Tyr
ENST00000448226.6:c.1241C>A	ENSP00000391803.2:p.Ser414Tyr
ENST00000472437.5:c.1067C>A	ENSP00000418845.1:p.Ser356Tyr
ENST00000478490.5:c.*567C>A	ENSP00000433487.1:n.*567C>A
ENST00000531774.1:c.734C>A	ENSP00000435909.1:p.Ser245Tyr
NM_000248.3:c.920C>A , LRG_776t1:c.920C>A	NP_000239.1:p.Ser307Tyr
NM_001184967.1:c.1067C>A	NP_001171896.1:p.Ser356Tyr
NM_006722.2:c.1220C>A	NP_006713.1:p.Ser407Tyr
NM_198158.2:c.902C>A	NP_937801.1:p.Ser301Tyr
NM_198159.2:c.1223C>A	NP_937802.1:p.Ser408Tyr
NM_198177.2:c.1175C>A	NP_937820.1:p.Ser392Tyr
NM_198178.2:c.734C>A	NP_937821.2:p.Ser245Tyr
XM_005264754.1:c.1241C>A	XP_005264811.1:p.Ser414Tyr
XM_005264755.2:c.1193C>A	XP_005264812.1:p.Ser398Tyr
XM_006713164.2:c.1085C>A	XP_006713227.1:p.Ser362Tyr
XM_011533722.1:c.1238C>A	XP_011532024.1:p.Ser413Tyr
XM_011533723.1:c.1190C>A	XP_011532025.1:p.Ser397Tyr
XM_011533724.1:c.1085C>A	XP_011532026.1:p.Ser362Tyr
XM_011533725.1:c.1073C>A	XP_011532027.1:p.Ser358Tyr
XM_011533726.1:c.1055C>A	XP_011532028.1:p.Ser352Tyr
NM_001354604.1:c.1241C>A	NP_001341533.1:p.Ser414Tyr
NM_001354605.1:c.1238C>A	NP_001341534.1:p.Ser413Tyr
NM_001354606.1:c.1220C>A	NP_001341535.1:p.Ser407Tyr
NM_001354607.1:c.1172C>A	NP_001341536.1:p.Ser391Tyr
NM_001354608.1:c.1067C>A	NP_001341537.1:p.Ser356Tyr
NM_001184967.2:c.1067C>A	NP_001171896.1:p.Ser356Tyr
NM_001354604.2:c.1241C>A MANE Select	NP_001341533.1:p.Ser414Tyr
NM_001354605.2:c.1238C>A	NP_001341534.1:p.Ser413Tyr
NM_001354606.2:c.1220C>A	NP_001341535.1:p.Ser407Tyr
NM_001354607.2:c.1172C>A	NP_001341536.1:p.Ser391Tyr
NM_001354608.2:c.1067C>A	NP_001341537.1:p.Ser356Tyr
NM_198158.3:c.902C>A	NP_937801.1:p.Ser301Tyr
NM_198159.3:c.1223C>A	NP_937802.1:p.Ser408Tyr
NM_198177.3:c.1175C>A	NP_937820.1:p.Ser392Tyr
NM_198178.3:c.734C>A	NP_937821.2:p.Ser245Tyr
NM_000248.4:c.920C>A MANE Plus Clinical	NP_000239.1:p.Ser307Tyr
NM_006722.3:c.1220C>A	NP_006713.1:p.Ser407Tyr