Canonical Allele Identifier: CA353561620
Gene: MITF HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.69951863A>T , CM000665.2:g.69951863A>T GRCh38
NC_000003.11:g.70001014A>T , CM000665.1:g.70001014A>T GRCh37
NC_000003.10:g.70083704A>T NCBI36
NG_011631.1:g.217382A>T , LRG_776:g.217382A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000314589.11:c.866A>T ENSP00000324443.5:p.Gln289Leu
ENST00000687384.1:c.863A>T ENSP00000510225.1:p.Gln288Leu
ENST00000689390.1:n.1088A>T
ENST00000693031.1:c.839A>T ENSP00000509845.1:p.Gln280Leu
ENST00000693549.1:c.866A>T ENSP00000509358.1:p.Gln289Leu
ENST00000314589.10:c.866A>T ENSP00000324443.5:p.Gln289Leu
ENST00000352241.9:c.932A>T MANE Select ENSP00000295600.8:p.Gln311Leu
ENST00000394351.9:c.611A>T MANE Plus Clinical ENSP00000377880.3:p.Gln204Leu
ENST00000448226.9:c.911A>T ENSP00000391803.3:p.Gln304Leu
ENST00000642352.1:c.914A>T ENSP00000494105.1:p.Gln305Leu
ENST00000314557.10:c.593A>T ENSP00000324246.6:p.Gln198Leu
ENST00000314589.9:c.866A>T ENSP00000324443.5:p.Gln289Leu
ENST00000328528.10:c.911A>T ENSP00000327867.6:p.Gln304Leu
ENST00000352241.8:c.914A>T ENSP00000295600.7:p.Gln305Leu
ENST00000394351.7:c.611A>T ENSP00000377880.3:p.Gln204Leu
ENST00000448226.6:c.932A>T ENSP00000391803.2:p.Gln311Leu
ENST00000451708.5:c.884A>T ENSP00000398639.1:p.Gln295Leu
ENST00000472437.5:c.758A>T ENSP00000418845.1:p.Gln253Leu
ENST00000478490.5:c.*258A>T ENSP00000433487.1:n.*258A>T
ENST00000531774.1:c.425A>T ENSP00000435909.1:p.Gln142Leu
NM_000248.3:c.611A>T , LRG_776t1:c.611A>T NP_000239.1:p.Gln204Leu
NM_001184967.1:c.758A>T NP_001171896.1:p.Gln253Leu
NM_006722.2:c.911A>T NP_006713.1:p.Gln304Leu
NM_198158.2:c.593A>T NP_937801.1:p.Gln198Leu
NM_198159.2:c.914A>T NP_937802.1:p.Gln305Leu
NM_198177.2:c.866A>T NP_937820.1:p.Gln289Leu
NM_198178.2:c.425A>T NP_937821.2:p.Gln142Leu
XM_005264754.1:c.932A>T XP_005264811.1:p.Gln311Leu
XM_005264755.2:c.884A>T XP_005264812.1:p.Gln295Leu
XM_006713164.2:c.776A>T XP_006713227.1:p.Gln259Leu
XM_011533722.1:c.929A>T XP_011532024.1:p.Gln310Leu
XM_011533723.1:c.881A>T XP_011532025.1:p.Gln294Leu
XM_011533724.1:c.776A>T XP_011532026.1:p.Gln259Leu
XM_011533725.1:c.764A>T XP_011532027.1:p.Gln255Leu
XM_011533726.1:c.746A>T XP_011532028.1:p.Gln249Leu
NM_001354604.1:c.932A>T NP_001341533.1:p.Gln311Leu
NM_001354605.1:c.929A>T NP_001341534.1:p.Gln310Leu
NM_001354606.1:c.911A>T NP_001341535.1:p.Gln304Leu
NM_001354607.1:c.863A>T NP_001341536.1:p.Gln288Leu
NM_001354608.1:c.758A>T NP_001341537.1:p.Gln253Leu
NM_001184967.2:c.758A>T NP_001171896.1:p.Gln253Leu
NM_001354604.2:c.932A>T MANE Select NP_001341533.1:p.Gln311Leu
NM_001354605.2:c.929A>T NP_001341534.1:p.Gln310Leu
NM_001354606.2:c.911A>T NP_001341535.1:p.Gln304Leu
NM_001354607.2:c.863A>T NP_001341536.1:p.Gln288Leu
NM_001354608.2:c.758A>T NP_001341537.1:p.Gln253Leu
NM_198158.3:c.593A>T NP_937801.1:p.Gln198Leu
NM_198159.3:c.914A>T NP_937802.1:p.Gln305Leu
NM_198177.3:c.866A>T NP_937820.1:p.Gln289Leu
NM_198178.3:c.425A>T NP_937821.2:p.Gln142Leu
NM_000248.4:c.611A>T MANE Plus Clinical NP_000239.1:p.Gln204Leu
NM_006722.3:c.911A>T NP_006713.1:p.Gln304Leu