Canonical Allele Identifier: CA353561781

Gene: MITF

Linked Data

• ClinVar Variation Id: 545016
• ClinVar RCV Id: RCV000721951 ; RCV003411560
• dbSNP Id: rs147682682
• MyVariant Identifiers: chr3:g.70005647G>T (hg19) ; chr3:g.69956496G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.69956496G>T , CM000665.2:g.69956496G>T	GRCh38
NC_000003.11:g.70005647G>T , CM000665.1:g.70005647G>T	GRCh37
NC_000003.10:g.70088337G>T	NCBI36
NG_011631.1:g.222015G>T , LRG_776:g.222015G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000314589.11:c.931G>T	ENSP00000324443.5:p.Glu311Ter
ENST00000687384.1:c.928G>T	ENSP00000510225.1:p.Glu310Ter
ENST00000689390.1:n.1153G>T
ENST00000693031.1:c.904G>T	ENSP00000509845.1:p.Glu302Ter
ENST00000693549.1:c.931G>T	ENSP00000509358.1:p.Glu311Ter
ENST00000314589.10:c.931G>T	ENSP00000324443.5:p.Glu311Ter
ENST00000352241.9:c.997G>T MANE Select	ENSP00000295600.8:p.Glu333Ter
ENST00000394351.9:c.676G>T MANE Plus Clinical	ENSP00000377880.3:p.Glu226Ter
ENST00000448226.9:c.976G>T	ENSP00000391803.3:p.Glu326Ter
ENST00000642352.1:c.979G>T	ENSP00000494105.1:p.Glu327Ter
ENST00000314557.10:c.658G>T	ENSP00000324246.6:p.Glu220Ter
ENST00000314589.9:c.931G>T	ENSP00000324443.5:p.Glu311Ter
ENST00000328528.10:c.976G>T	ENSP00000327867.6:p.Glu326Ter
ENST00000352241.8:c.979G>T	ENSP00000295600.7:p.Glu327Ter
ENST00000394351.7:c.676G>T	ENSP00000377880.3:p.Glu226Ter
ENST00000448226.6:c.997G>T	ENSP00000391803.2:p.Glu333Ter
ENST00000451708.5:c.949G>T	ENSP00000398639.1:p.Glu317Ter
ENST00000472437.5:c.823G>T	ENSP00000418845.1:p.Glu275Ter
ENST00000478490.5:c.*323G>T	ENSP00000433487.1:n.*323G>T
ENST00000531774.1:c.490G>T	ENSP00000435909.1:p.Glu164Ter
NM_000248.3:c.676G>T , LRG_776t1:c.676G>T	NP_000239.1:p.Glu226Ter
NM_001184967.1:c.823G>T	NP_001171896.1:p.Glu275Ter
NM_006722.2:c.976G>T	NP_006713.1:p.Glu326Ter
NM_198158.2:c.658G>T	NP_937801.1:p.Glu220Ter
NM_198159.2:c.979G>T	NP_937802.1:p.Glu327Ter
NM_198177.2:c.931G>T	NP_937820.1:p.Glu311Ter
NM_198178.2:c.490G>T	NP_937821.2:p.Glu164Ter
XM_005264754.1:c.997G>T	XP_005264811.1:p.Glu333Ter
XM_005264755.2:c.949G>T	XP_005264812.1:p.Glu317Ter
XM_006713164.2:c.841G>T	XP_006713227.1:p.Glu281Ter
XM_011533722.1:c.994G>T	XP_011532024.1:p.Glu332Ter
XM_011533723.1:c.946G>T	XP_011532025.1:p.Glu316Ter
XM_011533724.1:c.841G>T	XP_011532026.1:p.Glu281Ter
XM_011533725.1:c.829G>T	XP_011532027.1:p.Glu277Ter
XM_011533726.1:c.811G>T	XP_011532028.1:p.Glu271Ter
NM_001354604.1:c.997G>T	NP_001341533.1:p.Glu333Ter
NM_001354605.1:c.994G>T	NP_001341534.1:p.Glu332Ter
NM_001354606.1:c.976G>T	NP_001341535.1:p.Glu326Ter
NM_001354607.1:c.928G>T	NP_001341536.1:p.Glu310Ter
NM_001354608.1:c.823G>T	NP_001341537.1:p.Glu275Ter
NM_001184967.2:c.823G>T	NP_001171896.1:p.Glu275Ter
NM_001354604.2:c.997G>T MANE Select	NP_001341533.1:p.Glu333Ter
NM_001354605.2:c.994G>T	NP_001341534.1:p.Glu332Ter
NM_001354606.2:c.976G>T	NP_001341535.1:p.Glu326Ter
NM_001354607.2:c.928G>T	NP_001341536.1:p.Glu310Ter
NM_001354608.2:c.823G>T	NP_001341537.1:p.Glu275Ter
NM_198158.3:c.658G>T	NP_937801.1:p.Glu220Ter
NM_198159.3:c.979G>T	NP_937802.1:p.Glu327Ter
NM_198177.3:c.931G>T	NP_937820.1:p.Glu311Ter
NM_198178.3:c.490G>T	NP_937821.2:p.Glu164Ter
NM_000248.4:c.676G>T MANE Plus Clinical	NP_000239.1:p.Glu226Ter
NM_006722.3:c.976G>T	NP_006713.1:p.Glu326Ter