Canonical Allele Identifier: CA353560439

Gene: MITF

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.69937907T>G , CM000665.2:g.69937907T>G	GRCh38
NC_000003.11:g.69987058T>G , CM000665.1:g.69987058T>G	GRCh37
NC_000003.10:g.70069748T>G	NCBI36
NG_011631.1:g.203426T>G , LRG_776:g.203426T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001354604.2:c.440T>G MANE Select	NP_001341533.1:p.Leu147Ter
ENST00000352241.9:c.440T>G MANE Select	ENSP00000295600.8:p.Leu147Ter
NM_000248.4:c.119T>G MANE Plus Clinical	NP_000239.1:p.Leu40Ter
ENST00000394351.9:c.119T>G MANE Plus Clinical	ENSP00000377880.3:p.Leu40Ter
NM_000248.3:c.119T>G , LRG_776t1:c.119T>G	NP_000239.1:p.Leu40Ter
NM_001184967.1:c.284T>G	NP_001171896.1:p.Leu95Ter
NM_001184967.2:c.284T>G	NP_001171896.1:p.Leu95Ter
NM_001184968.1:c.119T>G	NP_001171897.1:p.Leu40Ter
NM_001184968.2:c.119T>G	NP_001171897.1:p.Leu40Ter
NM_001354604.1:c.440T>G	NP_001341533.1:p.Leu147Ter
NM_001354605.1:c.437T>G	NP_001341534.1:p.Leu146Ter
NM_001354605.2:c.437T>G	NP_001341534.1:p.Leu146Ter
NM_001354606.1:c.437T>G	NP_001341535.1:p.Leu146Ter
NM_001354606.2:c.437T>G	NP_001341535.1:p.Leu146Ter
NM_001354607.1:c.389T>G	NP_001341536.1:p.Leu130Ter
NM_001354607.2:c.389T>G	NP_001341536.1:p.Leu130Ter
NM_001354608.1:c.284T>G	NP_001341537.1:p.Leu95Ter
NM_001354608.2:c.284T>G	NP_001341537.1:p.Leu95Ter
NM_006722.2:c.437T>G	NP_006713.1:p.Leu146Ter
NM_006722.3:c.437T>G	NP_006713.1:p.Leu146Ter
NM_198158.2:c.119T>G	NP_937801.1:p.Leu40Ter
NM_198158.3:c.119T>G	NP_937801.1:p.Leu40Ter
NM_198159.2:c.440T>G	NP_937802.1:p.Leu147Ter
NM_198159.3:c.440T>G	NP_937802.1:p.Leu147Ter
NM_198177.2:c.392T>G	NP_937820.1:p.Leu131Ter
NM_198177.3:c.392T>G	NP_937820.1:p.Leu131Ter
NM_198178.2:c.93+26T>G	NP_937821.2:n.93+26T>G
NM_198178.3:c.93+26T>G	NP_937821.2:n.93+26T>G
ENST00000314557.10:c.119T>G	ENSP00000324246.6:p.Leu40Ter
ENST00000314589.10:c.392T>G	ENSP00000324443.5:p.Leu131Ter
ENST00000314589.11:c.392T>G	ENSP00000324443.5:p.Leu131Ter
ENST00000314589.9:c.392T>G	ENSP00000324443.5:p.Leu131Ter
ENST00000328528.10:c.437T>G	ENSP00000327867.6:p.Leu146Ter
ENST00000352241.8:c.440T>G	ENSP00000295600.7:p.Leu147Ter
ENST00000394348.2:c.119T>G	ENSP00000481286.1:p.Leu40Ter
ENST00000394351.7:c.119T>G	ENSP00000377880.3:p.Leu40Ter
ENST00000433517.5:c.258+26T>G	ENSP00000411389.1:n.258+26T>G
ENST00000448226.6:c.440T>G	ENSP00000391803.2:p.Leu147Ter
ENST00000448226.9:c.437T>G	ENSP00000391803.3:p.Leu146Ter
ENST00000451708.5:c.392T>G	ENSP00000398639.1:p.Leu131Ter
ENST00000461014.1:n.430T>G
ENST00000472437.5:c.284T>G	ENSP00000418845.1:p.Leu95Ter
ENST00000478490.5:c.119T>G	ENSP00000433487.1:p.Leu40Ter
ENST00000531774.1:c.93+26T>G	ENSP00000435909.1:n.93+26T>G
ENST00000642352.1:c.440T>G	ENSP00000494105.1:p.Leu147Ter
ENST00000687384.1:c.389T>G	ENSP00000510225.1:p.Leu130Ter
ENST00000689390.1:n.614T>G
ENST00000693031.1:c.414+26T>G	ENSP00000509845.1:n.414+26T>G
ENST00000693549.1:c.392T>G	ENSP00000509358.1:p.Leu131Ter
XM_005264754.1:c.440T>G	XP_005264811.1:p.Leu147Ter
XM_005264755.2:c.392T>G	XP_005264812.1:p.Leu131Ter
XM_006713164.2:c.284T>G	XP_006713227.1:p.Leu95Ter
XM_011533722.1:c.437T>G	XP_011532024.1:p.Leu146Ter
XM_011533723.1:c.389T>G	XP_011532025.1:p.Leu130Ter
XM_011533724.1:c.284T>G	XP_011532026.1:p.Leu95Ter
XM_011533725.1:c.414+26T>G	XP_011532027.1:n.414+26T>G
XM_011533726.1:c.414+26T>G	XP_011532028.1:n.414+26T>G