Canonical Allele Identifier: CA353559691

Gene: MITF

Linked Data

• MyVariant Identifiers: chr3:g.70014182T>C (hg19) ; chr3:g.69965031T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.69965031T>C , CM000665.2:g.69965031T>C	GRCh38
NC_000003.11:g.70014182T>C , CM000665.1:g.70014182T>C	GRCh37
NC_000003.10:g.70096872T>C	NCBI36
NG_011631.1:g.230550T>C , LRG_776:g.230550T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000314589.11:c.1298T>C	ENSP00000324443.5:p.Ile433Thr
ENST00000687384.1:c.1295T>C	ENSP00000510225.1:p.Ile432Thr
ENST00000689390.1:n.1520T>C
ENST00000693031.1:c.1271T>C	ENSP00000509845.1:p.Ile424Thr
ENST00000693549.1:c.*109T>C	ENSP00000509358.1:n.*109T>C
ENST00000314589.10:c.1298T>C	ENSP00000324443.5:p.Ile433Thr
ENST00000352241.9:c.1364T>C MANE Select	ENSP00000295600.8:p.Ile455Thr
ENST00000394351.9:c.1043T>C MANE Plus Clinical	ENSP00000377880.3:p.Ile348Thr
ENST00000448226.9:c.1343T>C	ENSP00000391803.3:p.Ile448Thr
ENST00000642352.1:c.1346T>C	ENSP00000494105.1:p.Ile449Thr
ENST00000314557.10:c.1025T>C	ENSP00000324246.6:p.Ile342Thr
ENST00000314589.9:c.1298T>C	ENSP00000324443.5:p.Ile433Thr
ENST00000328528.10:c.1343T>C	ENSP00000327867.6:p.Ile448Thr
ENST00000352241.8:c.1346T>C	ENSP00000295600.7:p.Ile449Thr
ENST00000394351.7:c.1043T>C	ENSP00000377880.3:p.Ile348Thr
ENST00000448226.6:c.1364T>C	ENSP00000391803.2:p.Ile455Thr
ENST00000472437.5:c.1190T>C	ENSP00000418845.1:p.Ile397Thr
ENST00000478490.5:c.*690T>C	ENSP00000433487.1:n.*690T>C
ENST00000531774.1:c.857T>C	ENSP00000435909.1:p.Ile286Thr
NM_000248.3:c.1043T>C , LRG_776t1:c.1043T>C	NP_000239.1:p.Ile348Thr
NM_001184967.1:c.1190T>C	NP_001171896.1:p.Ile397Thr
NM_006722.2:c.1343T>C	NP_006713.1:p.Ile448Thr
NM_198158.2:c.1025T>C	NP_937801.1:p.Ile342Thr
NM_198159.2:c.1346T>C	NP_937802.1:p.Ile449Thr
NM_198177.2:c.1298T>C	NP_937820.1:p.Ile433Thr
NM_198178.2:c.857T>C	NP_937821.2:p.Ile286Thr
XM_005264754.1:c.1364T>C	XP_005264811.1:p.Ile455Thr
XM_005264755.2:c.1316T>C	XP_005264812.1:p.Ile439Thr
XM_006713164.2:c.1208T>C	XP_006713227.1:p.Ile403Thr
XM_011533722.1:c.1361T>C	XP_011532024.1:p.Ile454Thr
XM_011533723.1:c.1313T>C	XP_011532025.1:p.Ile438Thr
XM_011533724.1:c.1208T>C	XP_011532026.1:p.Ile403Thr
XM_011533725.1:c.1196T>C	XP_011532027.1:p.Ile399Thr
XM_011533726.1:c.1178T>C	XP_011532028.1:p.Ile393Thr
NM_001354604.1:c.1364T>C	NP_001341533.1:p.Ile455Thr
NM_001354605.1:c.1361T>C	NP_001341534.1:p.Ile454Thr
NM_001354606.1:c.1343T>C	NP_001341535.1:p.Ile448Thr
NM_001354607.1:c.1295T>C	NP_001341536.1:p.Ile432Thr
NM_001354608.1:c.1190T>C	NP_001341537.1:p.Ile397Thr
NM_001184967.2:c.1190T>C	NP_001171896.1:p.Ile397Thr
NM_001354604.2:c.1364T>C MANE Select	NP_001341533.1:p.Ile455Thr
NM_001354605.2:c.1361T>C	NP_001341534.1:p.Ile454Thr
NM_001354606.2:c.1343T>C	NP_001341535.1:p.Ile448Thr
NM_001354607.2:c.1295T>C	NP_001341536.1:p.Ile432Thr
NM_001354608.2:c.1190T>C	NP_001341537.1:p.Ile397Thr
NM_198158.3:c.1025T>C	NP_937801.1:p.Ile342Thr
NM_198159.3:c.1346T>C	NP_937802.1:p.Ile449Thr
NM_198177.3:c.1298T>C	NP_937820.1:p.Ile433Thr
NM_198178.3:c.857T>C	NP_937821.2:p.Ile286Thr
NM_000248.4:c.1043T>C MANE Plus Clinical	NP_000239.1:p.Ile348Thr
NM_006722.3:c.1343T>C	NP_006713.1:p.Ile448Thr