Canonical Allele Identifier: CA2490451
Community Standard Title: NM_001354604.2(MITF):c.739C>T (p.Pro247Ser)
Gene: MITF HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.69941308C>T , CM000665.2:g.69941308C>T GRCh38
NC_000003.11:g.69990459C>T , CM000665.1:g.69990459C>T GRCh37
NC_000003.10:g.70073149C>T NCBI36
NG_011631.1:g.206827C>T , LRG_776:g.206827C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001354604.2:c.739C>T MANE Select NP_001341533.1:p.Pro247Ser
ENST00000352241.9:c.739C>T MANE Select ENSP00000295600.8:p.Pro247Ser
NM_000248.4:c.418C>T MANE Plus Clinical NP_000239.1:p.Pro140Ser
ENST00000394351.9:c.418C>T MANE Plus Clinical ENSP00000377880.3:p.Pro140Ser
NM_000248.3:c.418C>T , LRG_776t1:c.418C>T NP_000239.1:p.Pro140Ser
NM_001184967.1:c.583C>T NP_001171896.1:p.Pro195Ser
NM_001184967.2:c.583C>T NP_001171896.1:p.Pro195Ser
NM_001354604.1:c.739C>T NP_001341533.1:p.Pro247Ser
NM_001354605.1:c.736C>T NP_001341534.1:p.Pro246Ser
NM_001354605.2:c.736C>T NP_001341534.1:p.Pro246Ser
NM_001354606.1:c.736C>T NP_001341535.1:p.Pro246Ser
NM_001354606.2:c.736C>T NP_001341535.1:p.Pro246Ser
NM_001354607.1:c.688C>T NP_001341536.1:p.Pro230Ser
NM_001354607.2:c.688C>T NP_001341536.1:p.Pro230Ser
NM_001354608.1:c.583C>T NP_001341537.1:p.Pro195Ser
NM_001354608.2:c.583C>T NP_001341537.1:p.Pro195Ser
NM_006722.2:c.736C>T NP_006713.1:p.Pro246Ser
NM_006722.3:c.736C>T NP_006713.1:p.Pro246Ser
NM_198158.2:c.418C>T NP_937801.1:p.Pro140Ser
NM_198158.3:c.418C>T NP_937801.1:p.Pro140Ser
NM_198159.2:c.739C>T NP_937802.1:p.Pro247Ser
NM_198159.3:c.739C>T NP_937802.1:p.Pro247Ser
NM_198177.2:c.691C>T NP_937820.1:p.Pro231Ser
NM_198177.3:c.691C>T NP_937820.1:p.Pro231Ser
NM_198178.2:c.250C>T NP_937821.2:p.Pro84Ser
NM_198178.3:c.250C>T NP_937821.2:p.Pro84Ser
ENST00000314557.10:c.418C>T ENSP00000324246.6:p.Pro140Ser
ENST00000314589.10:c.691C>T ENSP00000324443.5:p.Pro231Ser
ENST00000314589.11:c.691C>T ENSP00000324443.5:p.Pro231Ser
ENST00000314589.9:c.691C>T ENSP00000324443.5:p.Pro231Ser
ENST00000328528.10:c.736C>T ENSP00000327867.6:p.Pro246Ser
ENST00000352241.8:c.739C>T ENSP00000295600.7:p.Pro247Ser
ENST00000394351.7:c.418C>T ENSP00000377880.3:p.Pro140Ser
ENST00000433517.5:c.415C>T ENSP00000411389.1:p.Pro139Ser
ENST00000448226.6:c.739C>T ENSP00000391803.2:p.Pro247Ser
ENST00000448226.9:c.736C>T ENSP00000391803.3:p.Pro246Ser
ENST00000451708.5:c.691C>T ENSP00000398639.1:p.Pro231Ser
ENST00000461014.1:n.729C>T
ENST00000472437.5:c.583C>T ENSP00000418845.1:p.Pro195Ser
ENST00000478490.5:c.*65C>T ENSP00000433487.1:n.*65C>T
ENST00000531774.1:c.250C>T ENSP00000435909.1:p.Pro84Ser
ENST00000642352.1:c.739C>T ENSP00000494105.1:p.Pro247Ser
ENST00000687384.1:c.688C>T ENSP00000510225.1:p.Pro230Ser
ENST00000689390.1:n.913C>T
ENST00000693031.1:c.664C>T ENSP00000509845.1:p.Pro222Ser
ENST00000693549.1:c.691C>T ENSP00000509358.1:p.Pro231Ser
XM_005264754.1:c.739C>T XP_005264811.1:p.Pro247Ser
XM_005264755.2:c.691C>T XP_005264812.1:p.Pro231Ser
XM_006713164.2:c.583C>T XP_006713227.1:p.Pro195Ser
XM_011533722.1:c.736C>T XP_011532024.1:p.Pro246Ser
XM_011533723.1:c.688C>T XP_011532025.1:p.Pro230Ser
XM_011533724.1:c.583C>T XP_011532026.1:p.Pro195Ser
XM_011533725.1:c.571C>T XP_011532027.1:p.Pro191Ser
XM_011533726.1:c.571C>T XP_011532028.1:p.Pro191Ser