Canonical Allele Identifier: CA353559498
Community Standard Title: NM_001354604.2(MITF):c.1273G>T (p.Glu425Ter)
Gene: MITF HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.69964940G>T , CM000665.2:g.69964940G>T GRCh38
NC_000003.11:g.70014091G>T , CM000665.1:g.70014091G>T GRCh37
NC_000003.10:g.70096781G>T NCBI36
NG_011631.1:g.230459G>T , LRG_776:g.230459G>T

Transcript Alleles

HGVS Amino-acid Change
NM_001354604.2:c.1273G>T MANE Select NP_001341533.1:p.Glu425Ter
ENST00000352241.9:c.1273G>T MANE Select ENSP00000295600.8:p.Glu425Ter
NM_000248.4:c.952G>T MANE Plus Clinical NP_000239.1:p.Glu318Ter
ENST00000394351.9:c.952G>T MANE Plus Clinical ENSP00000377880.3:p.Glu318Ter
NM_000248.3:c.952G>T , LRG_776t1:c.952G>T NP_000239.1:p.Glu318Ter
NM_001184967.1:c.1099G>T NP_001171896.1:p.Glu367Ter
NM_001184967.2:c.1099G>T NP_001171896.1:p.Glu367Ter
NM_001354604.1:c.1273G>T NP_001341533.1:p.Glu425Ter
NM_001354605.1:c.1270G>T NP_001341534.1:p.Glu424Ter
NM_001354605.2:c.1270G>T NP_001341534.1:p.Glu424Ter
NM_001354606.1:c.1252G>T NP_001341535.1:p.Glu418Ter
NM_001354606.2:c.1252G>T NP_001341535.1:p.Glu418Ter
NM_001354607.1:c.1204G>T NP_001341536.1:p.Glu402Ter
NM_001354607.2:c.1204G>T NP_001341536.1:p.Glu402Ter
NM_001354608.1:c.1099G>T NP_001341537.1:p.Glu367Ter
NM_001354608.2:c.1099G>T NP_001341537.1:p.Glu367Ter
NM_006722.2:c.1252G>T NP_006713.1:p.Glu418Ter
NM_006722.3:c.1252G>T NP_006713.1:p.Glu418Ter
NM_198158.2:c.934G>T NP_937801.1:p.Glu312Ter
NM_198158.3:c.934G>T NP_937801.1:p.Glu312Ter
NM_198159.2:c.1255G>T NP_937802.1:p.Glu419Ter
NM_198159.3:c.1255G>T NP_937802.1:p.Glu419Ter
NM_198177.2:c.1207G>T NP_937820.1:p.Glu403Ter
NM_198177.3:c.1207G>T NP_937820.1:p.Glu403Ter
NM_198178.2:c.766G>T NP_937821.2:p.Glu256Ter
NM_198178.3:c.766G>T NP_937821.2:p.Glu256Ter
ENST00000314557.10:c.934G>T ENSP00000324246.6:p.Glu312Ter
ENST00000314589.10:c.1207G>T ENSP00000324443.5:p.Glu403Ter
ENST00000314589.11:c.1207G>T ENSP00000324443.5:p.Glu403Ter
ENST00000314589.9:c.1207G>T ENSP00000324443.5:p.Glu403Ter
ENST00000328528.10:c.1252G>T ENSP00000327867.6:p.Glu418Ter
ENST00000352241.8:c.1255G>T ENSP00000295600.7:p.Glu419Ter
ENST00000394351.7:c.952G>T ENSP00000377880.3:p.Glu318Ter
ENST00000448226.6:c.1273G>T ENSP00000391803.2:p.Glu425Ter
ENST00000448226.9:c.1252G>T ENSP00000391803.3:p.Glu418Ter
ENST00000472437.5:c.1099G>T ENSP00000418845.1:p.Glu367Ter
ENST00000478490.5:c.*599G>T ENSP00000433487.1:n.*599G>T
ENST00000531774.1:c.766G>T ENSP00000435909.1:p.Glu256Ter
ENST00000642352.1:c.1255G>T ENSP00000494105.1:p.Glu419Ter
ENST00000687384.1:c.1204G>T ENSP00000510225.1:p.Glu402Ter
ENST00000689390.1:n.1429G>T
ENST00000693031.1:c.1180G>T ENSP00000509845.1:p.Glu394Ter
ENST00000693549.1:c.*18G>T ENSP00000509358.1:n.*18G>T
XM_005264754.1:c.1273G>T XP_005264811.1:p.Glu425Ter
XM_005264755.2:c.1225G>T XP_005264812.1:p.Glu409Ter
XM_006713164.2:c.1117G>T XP_006713227.1:p.Glu373Ter
XM_011533722.1:c.1270G>T XP_011532024.1:p.Glu424Ter
XM_011533723.1:c.1222G>T XP_011532025.1:p.Glu408Ter
XM_011533724.1:c.1117G>T XP_011532026.1:p.Glu373Ter
XM_011533725.1:c.1105G>T XP_011532027.1:p.Glu369Ter
XM_011533726.1:c.1087G>T XP_011532028.1:p.Glu363Ter