Canonical Allele Identifier: CA353559627

Gene: MITF

Linked Data

• MyVariant Identifiers: chr3:g.70014150T>G (hg19) ; chr3:g.69964999T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.69964999T>G , CM000665.2:g.69964999T>G	GRCh38
NC_000003.11:g.70014150T>G , CM000665.1:g.70014150T>G	GRCh37
NC_000003.10:g.70096840T>G	NCBI36
NG_011631.1:g.230518T>G , LRG_776:g.230518T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000314589.11:c.1266T>G	ENSP00000324443.5:p.Cys422Trp
ENST00000687384.1:c.1263T>G	ENSP00000510225.1:p.Cys421Trp
ENST00000689390.1:n.1488T>G
ENST00000693031.1:c.1239T>G	ENSP00000509845.1:p.Cys413Trp
ENST00000693549.1:c.*77T>G	ENSP00000509358.1:n.*77T>G
ENST00000314589.10:c.1266T>G	ENSP00000324443.5:p.Cys422Trp
ENST00000352241.9:c.1332T>G MANE Select	ENSP00000295600.8:p.Cys444Trp
ENST00000394351.9:c.1011T>G MANE Plus Clinical	ENSP00000377880.3:p.Cys337Trp
ENST00000448226.9:c.1311T>G	ENSP00000391803.3:p.Cys437Trp
ENST00000642352.1:c.1314T>G	ENSP00000494105.1:p.Cys438Trp
ENST00000314557.10:c.993T>G	ENSP00000324246.6:p.Cys331Trp
ENST00000314589.9:c.1266T>G	ENSP00000324443.5:p.Cys422Trp
ENST00000328528.10:c.1311T>G	ENSP00000327867.6:p.Cys437Trp
ENST00000352241.8:c.1314T>G	ENSP00000295600.7:p.Cys438Trp
ENST00000394351.7:c.1011T>G	ENSP00000377880.3:p.Cys337Trp
ENST00000448226.6:c.1332T>G	ENSP00000391803.2:p.Cys444Trp
ENST00000472437.5:c.1158T>G	ENSP00000418845.1:p.Cys386Trp
ENST00000478490.5:c.*658T>G	ENSP00000433487.1:n.*658T>G
ENST00000531774.1:c.825T>G	ENSP00000435909.1:p.Cys275Trp
NM_000248.3:c.1011T>G , LRG_776t1:c.1011T>G	NP_000239.1:p.Cys337Trp
NM_001184967.1:c.1158T>G	NP_001171896.1:p.Cys386Trp
NM_006722.2:c.1311T>G	NP_006713.1:p.Cys437Trp
NM_198158.2:c.993T>G	NP_937801.1:p.Cys331Trp
NM_198159.2:c.1314T>G	NP_937802.1:p.Cys438Trp
NM_198177.2:c.1266T>G	NP_937820.1:p.Cys422Trp
NM_198178.2:c.825T>G	NP_937821.2:p.Cys275Trp
XM_005264754.1:c.1332T>G	XP_005264811.1:p.Cys444Trp
XM_005264755.2:c.1284T>G	XP_005264812.1:p.Cys428Trp
XM_006713164.2:c.1176T>G	XP_006713227.1:p.Cys392Trp
XM_011533722.1:c.1329T>G	XP_011532024.1:p.Cys443Trp
XM_011533723.1:c.1281T>G	XP_011532025.1:p.Cys427Trp
XM_011533724.1:c.1176T>G	XP_011532026.1:p.Cys392Trp
XM_011533725.1:c.1164T>G	XP_011532027.1:p.Cys388Trp
XM_011533726.1:c.1146T>G	XP_011532028.1:p.Cys382Trp
NM_001354604.1:c.1332T>G	NP_001341533.1:p.Cys444Trp
NM_001354605.1:c.1329T>G	NP_001341534.1:p.Cys443Trp
NM_001354606.1:c.1311T>G	NP_001341535.1:p.Cys437Trp
NM_001354607.1:c.1263T>G	NP_001341536.1:p.Cys421Trp
NM_001354608.1:c.1158T>G	NP_001341537.1:p.Cys386Trp
NM_001184967.2:c.1158T>G	NP_001171896.1:p.Cys386Trp
NM_001354604.2:c.1332T>G MANE Select	NP_001341533.1:p.Cys444Trp
NM_001354605.2:c.1329T>G	NP_001341534.1:p.Cys443Trp
NM_001354606.2:c.1311T>G	NP_001341535.1:p.Cys437Trp
NM_001354607.2:c.1263T>G	NP_001341536.1:p.Cys421Trp
NM_001354608.2:c.1158T>G	NP_001341537.1:p.Cys386Trp
NM_198158.3:c.993T>G	NP_937801.1:p.Cys331Trp
NM_198159.3:c.1314T>G	NP_937802.1:p.Cys438Trp
NM_198177.3:c.1266T>G	NP_937820.1:p.Cys422Trp
NM_198178.3:c.825T>G	NP_937821.2:p.Cys275Trp
NM_000248.4:c.1011T>G MANE Plus Clinical	NP_000239.1:p.Cys337Trp
NM_006722.3:c.1311T>G	NP_006713.1:p.Cys437Trp