Canonical Allele Identifier: CA353559371

Gene: MITF

Linked Data

• dbSNP Id: rs1434180717
• COSMIC: COSM4120066 ; COSM4120067 ; COSM4120068 ; COSM4120069
• MyVariant Identifiers: chr3:g.70014029T>C (hg19) ; chr3:g.69964878T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.69964878T>C , CM000665.2:g.69964878T>C	GRCh38
NC_000003.11:g.70014029T>C , CM000665.1:g.70014029T>C	GRCh37
NC_000003.10:g.70096719T>C	NCBI36
NG_011631.1:g.230397T>C , LRG_776:g.230397T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000314589.11:c.1145T>C	ENSP00000324443.5:p.Leu382Pro
ENST00000687384.1:c.1142T>C	ENSP00000510225.1:p.Leu381Pro
ENST00000689390.1:n.1367T>C
ENST00000693031.1:c.1118T>C	ENSP00000509845.1:p.Leu373Pro
ENST00000693549.1:c.1114-36T>C	ENSP00000509358.1:n.1114-36T>C
ENST00000314589.10:c.1145T>C	ENSP00000324443.5:p.Leu382Pro
ENST00000352241.9:c.1211T>C MANE Select	ENSP00000295600.8:p.Leu404Pro
ENST00000394351.9:c.890T>C MANE Plus Clinical	ENSP00000377880.3:p.Leu297Pro
ENST00000448226.9:c.1190T>C	ENSP00000391803.3:p.Leu397Pro
ENST00000642352.1:c.1193T>C	ENSP00000494105.1:p.Leu398Pro
ENST00000314557.10:c.872T>C	ENSP00000324246.6:p.Leu291Pro
ENST00000314589.9:c.1145T>C	ENSP00000324443.5:p.Leu382Pro
ENST00000328528.10:c.1190T>C	ENSP00000327867.6:p.Leu397Pro
ENST00000352241.8:c.1193T>C	ENSP00000295600.7:p.Leu398Pro
ENST00000394351.7:c.890T>C	ENSP00000377880.3:p.Leu297Pro
ENST00000448226.6:c.1211T>C	ENSP00000391803.2:p.Leu404Pro
ENST00000472437.5:c.1037T>C	ENSP00000418845.1:p.Leu346Pro
ENST00000478490.5:c.*537T>C	ENSP00000433487.1:n.*537T>C
ENST00000531774.1:c.704T>C	ENSP00000435909.1:p.Leu235Pro
NM_000248.3:c.890T>C , LRG_776t1:c.890T>C	NP_000239.1:p.Leu297Pro
NM_001184967.1:c.1037T>C	NP_001171896.1:p.Leu346Pro
NM_006722.2:c.1190T>C	NP_006713.1:p.Leu397Pro
NM_198158.2:c.872T>C	NP_937801.1:p.Leu291Pro
NM_198159.2:c.1193T>C	NP_937802.1:p.Leu398Pro
NM_198177.2:c.1145T>C	NP_937820.1:p.Leu382Pro
NM_198178.2:c.704T>C	NP_937821.2:p.Leu235Pro
XM_005264754.1:c.1211T>C	XP_005264811.1:p.Leu404Pro
XM_005264755.2:c.1163T>C	XP_005264812.1:p.Leu388Pro
XM_006713164.2:c.1055T>C	XP_006713227.1:p.Leu352Pro
XM_011533722.1:c.1208T>C	XP_011532024.1:p.Leu403Pro
XM_011533723.1:c.1160T>C	XP_011532025.1:p.Leu387Pro
XM_011533724.1:c.1055T>C	XP_011532026.1:p.Leu352Pro
XM_011533725.1:c.1043T>C	XP_011532027.1:p.Leu348Pro
XM_011533726.1:c.1025T>C	XP_011532028.1:p.Leu342Pro
NM_001354604.1:c.1211T>C	NP_001341533.1:p.Leu404Pro
NM_001354605.1:c.1208T>C	NP_001341534.1:p.Leu403Pro
NM_001354606.1:c.1190T>C	NP_001341535.1:p.Leu397Pro
NM_001354607.1:c.1142T>C	NP_001341536.1:p.Leu381Pro
NM_001354608.1:c.1037T>C	NP_001341537.1:p.Leu346Pro
NM_001184967.2:c.1037T>C	NP_001171896.1:p.Leu346Pro
NM_001354604.2:c.1211T>C MANE Select	NP_001341533.1:p.Leu404Pro
NM_001354605.2:c.1208T>C	NP_001341534.1:p.Leu403Pro
NM_001354606.2:c.1190T>C	NP_001341535.1:p.Leu397Pro
NM_001354607.2:c.1142T>C	NP_001341536.1:p.Leu381Pro
NM_001354608.2:c.1037T>C	NP_001341537.1:p.Leu346Pro
NM_198158.3:c.872T>C	NP_937801.1:p.Leu291Pro
NM_198159.3:c.1193T>C	NP_937802.1:p.Leu398Pro
NM_198177.3:c.1145T>C	NP_937820.1:p.Leu382Pro
NM_198178.3:c.704T>C	NP_937821.2:p.Leu235Pro
NM_000248.4:c.890T>C MANE Plus Clinical	NP_000239.1:p.Leu297Pro
NM_006722.3:c.1190T>C	NP_006713.1:p.Leu397Pro