Canonical Allele Identifier: CA434305871
Community Standard Title: NM_001354604.2(MITF):c.808C>T (p.Leu270=)
Gene: MITF HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.69949096C>T , CM000665.2:g.69949096C>T GRCh38
NC_000003.11:g.69998247C>T , CM000665.1:g.69998247C>T GRCh37
NC_000003.10:g.70080937C>T NCBI36
NG_011631.1:g.214615C>T , LRG_776:g.214615C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001354604.2:c.808C>T MANE Select NP_001341533.1:p.Leu270=
ENST00000352241.9:c.808C>T MANE Select ENSP00000295600.8:p.Leu270=
NM_000248.4:c.487C>T MANE Plus Clinical NP_000239.1:p.Leu163=
ENST00000394351.9:c.487C>T MANE Plus Clinical ENSP00000377880.3:p.Leu163=
NM_000248.3:c.487C>T , LRG_776t1:c.487C>T NP_000239.1:p.Leu163=
NM_001184967.1:c.652C>T NP_001171896.1:p.Leu218=
NM_001184967.2:c.652C>T NP_001171896.1:p.Leu218=
NM_001354604.1:c.808C>T NP_001341533.1:p.Leu270=
NM_001354605.1:c.805C>T NP_001341534.1:p.Leu269=
NM_001354605.2:c.805C>T NP_001341534.1:p.Leu269=
NM_001354606.1:c.805C>T NP_001341535.1:p.Leu269=
NM_001354606.2:c.805C>T NP_001341535.1:p.Leu269=
NM_001354607.1:c.757C>T NP_001341536.1:p.Leu253=
NM_001354607.2:c.757C>T NP_001341536.1:p.Leu253=
NM_001354608.1:c.652C>T NP_001341537.1:p.Leu218=
NM_001354608.2:c.652C>T NP_001341537.1:p.Leu218=
NM_006722.2:c.805C>T NP_006713.1:p.Leu269=
NM_006722.3:c.805C>T NP_006713.1:p.Leu269=
NM_198158.2:c.487C>T NP_937801.1:p.Leu163=
NM_198158.3:c.487C>T NP_937801.1:p.Leu163=
NM_198159.2:c.808C>T NP_937802.1:p.Leu270=
NM_198159.3:c.808C>T NP_937802.1:p.Leu270=
NM_198177.2:c.760C>T NP_937820.1:p.Leu254=
NM_198177.3:c.760C>T NP_937820.1:p.Leu254=
NM_198178.2:c.319C>T NP_937821.2:p.Leu107=
NM_198178.3:c.319C>T NP_937821.2:p.Leu107=
ENST00000314557.10:c.487C>T ENSP00000324246.6:p.Leu163=
ENST00000314589.10:c.760C>T ENSP00000324443.5:p.Leu254=
ENST00000314589.11:c.760C>T ENSP00000324443.5:p.Leu254=
ENST00000314589.9:c.760C>T ENSP00000324443.5:p.Leu254=
ENST00000328528.10:c.805C>T ENSP00000327867.6:p.Leu269=
ENST00000352241.8:c.808C>T ENSP00000295600.7:p.Leu270=
ENST00000394351.7:c.487C>T ENSP00000377880.3:p.Leu163=
ENST00000448226.6:c.808C>T ENSP00000391803.2:p.Leu270=
ENST00000448226.9:c.805C>T ENSP00000391803.3:p.Leu269=
ENST00000451708.5:c.760C>T ENSP00000398639.1:p.Leu254=
ENST00000472437.5:c.652C>T ENSP00000418845.1:p.Leu218=
ENST00000478490.5:c.*134C>T ENSP00000433487.1:n.*134C>T
ENST00000531774.1:c.319C>T ENSP00000435909.1:p.Leu107=
ENST00000642352.1:c.808C>T ENSP00000494105.1:p.Leu270=
ENST00000687384.1:c.757C>T ENSP00000510225.1:p.Leu253=
ENST00000689390.1:n.982C>T
ENST00000693031.1:c.733C>T ENSP00000509845.1:p.Leu245=
ENST00000693549.1:c.760C>T ENSP00000509358.1:p.Leu254=
XM_005264754.1:c.808C>T XP_005264811.1:p.Leu270=
XM_005264755.2:c.760C>T XP_005264812.1:p.Leu254=
XM_006713164.2:c.652C>T XP_006713227.1:p.Leu218=
XM_011533722.1:c.805C>T XP_011532024.1:p.Leu269=
XM_011533723.1:c.757C>T XP_011532025.1:p.Leu253=
XM_011533724.1:c.652C>T XP_011532026.1:p.Leu218=
XM_011533725.1:c.640C>T XP_011532027.1:p.Leu214=
XM_011533726.1:c.640C>T XP_011532028.1:p.Leu214=