Canonical Allele Identifier: CA353561938
Community Standard Title: NM_001354604.2(MITF):c.1061T>G (p.Leu354Ter)
Gene: MITF HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.69959302T>G , CM000665.2:g.69959302T>G GRCh38
NC_000003.11:g.70008453T>G , CM000665.1:g.70008453T>G GRCh37
NC_000003.10:g.70091143T>G NCBI36
NG_011631.1:g.224821T>G , LRG_776:g.224821T>G

Transcript Alleles

HGVS Amino-acid Change
NM_001354604.2:c.1061T>G MANE Select NP_001341533.1:p.Leu354Ter
ENST00000352241.9:c.1061T>G MANE Select ENSP00000295600.8:p.Leu354Ter
NM_000248.4:c.740T>G MANE Plus Clinical NP_000239.1:p.Leu247Ter
ENST00000394351.9:c.740T>G MANE Plus Clinical ENSP00000377880.3:p.Leu247Ter
NM_000248.3:c.740T>G , LRG_776t1:c.740T>G NP_000239.1:p.Leu247Ter
NM_001184967.1:c.887T>G NP_001171896.1:p.Leu296Ter
NM_001184967.2:c.887T>G NP_001171896.1:p.Leu296Ter
NM_001354604.1:c.1061T>G NP_001341533.1:p.Leu354Ter
NM_001354605.1:c.1058T>G NP_001341534.1:p.Leu353Ter
NM_001354605.2:c.1058T>G NP_001341534.1:p.Leu353Ter
NM_001354606.1:c.1040T>G NP_001341535.1:p.Leu347Ter
NM_001354606.2:c.1040T>G NP_001341535.1:p.Leu347Ter
NM_001354607.1:c.992T>G NP_001341536.1:p.Leu331Ter
NM_001354607.2:c.992T>G NP_001341536.1:p.Leu331Ter
NM_001354608.1:c.887T>G NP_001341537.1:p.Leu296Ter
NM_001354608.2:c.887T>G NP_001341537.1:p.Leu296Ter
NM_006722.2:c.1040T>G NP_006713.1:p.Leu347Ter
NM_006722.3:c.1040T>G NP_006713.1:p.Leu347Ter
NM_198158.2:c.722T>G NP_937801.1:p.Leu241Ter
NM_198158.3:c.722T>G NP_937801.1:p.Leu241Ter
NM_198159.2:c.1043T>G NP_937802.1:p.Leu348Ter
NM_198159.3:c.1043T>G NP_937802.1:p.Leu348Ter
NM_198177.2:c.995T>G NP_937820.1:p.Leu332Ter
NM_198177.3:c.995T>G NP_937820.1:p.Leu332Ter
NM_198178.2:c.554T>G NP_937821.2:p.Leu185Ter
NM_198178.3:c.554T>G NP_937821.2:p.Leu185Ter
ENST00000314557.10:c.722T>G ENSP00000324246.6:p.Leu241Ter
ENST00000314589.10:c.995T>G ENSP00000324443.5:p.Leu332Ter
ENST00000314589.11:c.995T>G ENSP00000324443.5:p.Leu332Ter
ENST00000314589.9:c.995T>G ENSP00000324443.5:p.Leu332Ter
ENST00000328528.10:c.1040T>G ENSP00000327867.6:p.Leu347Ter
ENST00000352241.8:c.1043T>G ENSP00000295600.7:p.Leu348Ter
ENST00000394351.7:c.740T>G ENSP00000377880.3:p.Leu247Ter
ENST00000448226.6:c.1061T>G ENSP00000391803.2:p.Leu354Ter
ENST00000448226.9:c.1040T>G ENSP00000391803.3:p.Leu347Ter
ENST00000451708.5:c.1013T>G ENSP00000398639.1:p.Leu338Ter
ENST00000472437.5:c.887T>G ENSP00000418845.1:p.Leu296Ter
ENST00000478490.5:c.*387T>G ENSP00000433487.1:n.*387T>G
ENST00000531774.1:c.554T>G ENSP00000435909.1:p.Leu185Ter
ENST00000642352.1:c.1043T>G ENSP00000494105.1:p.Leu348Ter
ENST00000687384.1:c.992T>G ENSP00000510225.1:p.Leu331Ter
ENST00000689390.1:n.1217T>G
ENST00000693031.1:c.968T>G ENSP00000509845.1:p.Leu323Ter
ENST00000693549.1:c.995T>G ENSP00000509358.1:p.Leu332Ter
XM_005264754.1:c.1061T>G XP_005264811.1:p.Leu354Ter
XM_005264755.2:c.1013T>G XP_005264812.1:p.Leu338Ter
XM_006713164.2:c.905T>G XP_006713227.1:p.Leu302Ter
XM_011533722.1:c.1058T>G XP_011532024.1:p.Leu353Ter
XM_011533723.1:c.1010T>G XP_011532025.1:p.Leu337Ter
XM_011533724.1:c.905T>G XP_011532026.1:p.Leu302Ter
XM_011533725.1:c.893T>G XP_011532027.1:p.Leu298Ter
XM_011533726.1:c.875T>G XP_011532028.1:p.Leu292Ter