Canonical Allele Identifier: CA434433371

Gene: MITF

Linked Data

• MyVariant Identifiers: chr3:g.70014030T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.69964879T>C , CM000665.2:g.69964879T>C	GRCh38
NC_000003.11:g.70014030T>C , CM000665.1:g.70014030T>C	GRCh37
NC_000003.10:g.70096720T>C	NCBI36
NG_011631.1:g.230398T>C , LRG_776:g.230398T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000314589.11:c.1146T>C	ENSP00000324443.5:p.Leu382=
ENST00000687384.1:c.1143T>C	ENSP00000510225.1:p.Leu381=
ENST00000689390.1:n.1368T>C
ENST00000693031.1:c.1119T>C	ENSP00000509845.1:p.Leu373=
ENST00000693549.1:c.1114-35T>C	ENSP00000509358.1:n.1114-35T>C
ENST00000314589.10:c.1146T>C	ENSP00000324443.5:p.Leu382=
ENST00000352241.9:c.1212T>C MANE Select	ENSP00000295600.8:p.Leu404=
ENST00000394351.9:c.891T>C MANE Plus Clinical	ENSP00000377880.3:p.Leu297=
ENST00000448226.9:c.1191T>C	ENSP00000391803.3:p.Leu397=
ENST00000642352.1:c.1194T>C	ENSP00000494105.1:p.Leu398=
ENST00000314557.10:c.873T>C	ENSP00000324246.6:p.Leu291=
ENST00000314589.9:c.1146T>C	ENSP00000324443.5:p.Leu382=
ENST00000328528.10:c.1191T>C	ENSP00000327867.6:p.Leu397=
ENST00000352241.8:c.1194T>C	ENSP00000295600.7:p.Leu398=
ENST00000394351.7:c.891T>C	ENSP00000377880.3:p.Leu297=
ENST00000448226.6:c.1212T>C	ENSP00000391803.2:p.Leu404=
ENST00000472437.5:c.1038T>C	ENSP00000418845.1:p.Leu346=
ENST00000478490.5:c.*538T>C	ENSP00000433487.1:n.*538T>C
ENST00000531774.1:c.705T>C	ENSP00000435909.1:p.Leu235=
NM_000248.3:c.891T>C , LRG_776t1:c.891T>C	NP_000239.1:p.Leu297=
NM_001184967.1:c.1038T>C	NP_001171896.1:p.Leu346=
NM_006722.2:c.1191T>C	NP_006713.1:p.Leu397=
NM_198158.2:c.873T>C	NP_937801.1:p.Leu291=
NM_198159.2:c.1194T>C	NP_937802.1:p.Leu398=
NM_198177.2:c.1146T>C	NP_937820.1:p.Leu382=
NM_198178.2:c.705T>C	NP_937821.2:p.Leu235=
XM_005264754.1:c.1212T>C	XP_005264811.1:p.Leu404=
XM_005264755.2:c.1164T>C	XP_005264812.1:p.Leu388=
XM_006713164.2:c.1056T>C	XP_006713227.1:p.Leu352=
XM_011533722.1:c.1209T>C	XP_011532024.1:p.Leu403=
XM_011533723.1:c.1161T>C	XP_011532025.1:p.Leu387=
XM_011533724.1:c.1056T>C	XP_011532026.1:p.Leu352=
XM_011533725.1:c.1044T>C	XP_011532027.1:p.Leu348=
XM_011533726.1:c.1026T>C	XP_011532028.1:p.Leu342=
NM_001354604.1:c.1212T>C	NP_001341533.1:p.Leu404=
NM_001354605.1:c.1209T>C	NP_001341534.1:p.Leu403=
NM_001354606.1:c.1191T>C	NP_001341535.1:p.Leu397=
NM_001354607.1:c.1143T>C	NP_001341536.1:p.Leu381=
NM_001354608.1:c.1038T>C	NP_001341537.1:p.Leu346=
NM_001184967.2:c.1038T>C	NP_001171896.1:p.Leu346=
NM_001354604.2:c.1212T>C MANE Select	NP_001341533.1:p.Leu404=
NM_001354605.2:c.1209T>C	NP_001341534.1:p.Leu403=
NM_001354606.2:c.1191T>C	NP_001341535.1:p.Leu397=
NM_001354607.2:c.1143T>C	NP_001341536.1:p.Leu381=
NM_001354608.2:c.1038T>C	NP_001341537.1:p.Leu346=
NM_198158.3:c.873T>C	NP_937801.1:p.Leu291=
NM_198159.3:c.1194T>C	NP_937802.1:p.Leu398=
NM_198177.3:c.1146T>C	NP_937820.1:p.Leu382=
NM_198178.3:c.705T>C	NP_937821.2:p.Leu235=
NM_000248.4:c.891T>C MANE Plus Clinical	NP_000239.1:p.Leu297=
NM_006722.3:c.1191T>C	NP_006713.1:p.Leu397=