Canonical Allele Identifier: CA353560021

Gene: MITF

Linked Data

• MyVariant Identifiers: chr3:g.70014345A>T (hg19) ; chr3:g.69965194A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.69965194A>T , CM000665.2:g.69965194A>T	GRCh38
NC_000003.11:g.70014345A>T , CM000665.1:g.70014345A>T	GRCh37
NC_000003.10:g.70097035A>T	NCBI36
NG_011631.1:g.230713A>T , LRG_776:g.230713A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000314589.11:c.1461A>T	ENSP00000324443.5:p.Lys487Asn
ENST00000687384.1:c.1458A>T	ENSP00000510225.1:p.Lys486Asn
ENST00000689390.1:n.1683A>T
ENST00000693031.1:c.1434A>T	ENSP00000509845.1:p.Lys478Asn
ENST00000693549.1:c.*272A>T	ENSP00000509358.1:n.*272A>T
ENST00000314589.10:c.1461A>T	ENSP00000324443.5:p.Lys487Asn
ENST00000352241.9:c.1527A>T MANE Select	ENSP00000295600.8:p.Lys509Asn
ENST00000394351.9:c.1206A>T MANE Plus Clinical	ENSP00000377880.3:p.Lys402Asn
ENST00000448226.9:c.1506A>T	ENSP00000391803.3:p.Lys502Asn
ENST00000642352.1:c.1509A>T	ENSP00000494105.1:p.Lys503Asn
ENST00000314557.10:c.1188A>T	ENSP00000324246.6:p.Lys396Asn
ENST00000314589.9:c.1461A>T	ENSP00000324443.5:p.Lys487Asn
ENST00000328528.10:c.1506A>T	ENSP00000327867.6:p.Lys502Asn
ENST00000352241.8:c.1509A>T	ENSP00000295600.7:p.Lys503Asn
ENST00000394351.7:c.1206A>T	ENSP00000377880.3:p.Lys402Asn
ENST00000448226.6:c.1527A>T	ENSP00000391803.2:p.Lys509Asn
ENST00000472437.5:c.1353A>T	ENSP00000418845.1:p.Lys451Asn
ENST00000478490.5:c.*853A>T	ENSP00000433487.1:n.*853A>T
ENST00000531774.1:c.1020A>T	ENSP00000435909.1:p.Lys340Asn
NM_000248.3:c.1206A>T , LRG_776t1:c.1206A>T	NP_000239.1:p.Lys402Asn
NM_001184967.1:c.1353A>T	NP_001171896.1:p.Lys451Asn
NM_006722.2:c.1506A>T	NP_006713.1:p.Lys502Asn
NM_198158.2:c.1188A>T	NP_937801.1:p.Lys396Asn
NM_198159.2:c.1509A>T	NP_937802.1:p.Lys503Asn
NM_198177.2:c.1461A>T	NP_937820.1:p.Lys487Asn
NM_198178.2:c.1020A>T	NP_937821.2:p.Lys340Asn
XM_005264754.1:c.1527A>T	XP_005264811.1:p.Lys509Asn
XM_005264755.2:c.1479A>T	XP_005264812.1:p.Lys493Asn
XM_006713164.2:c.1371A>T	XP_006713227.1:p.Lys457Asn
XM_011533722.1:c.1524A>T	XP_011532024.1:p.Lys508Asn
XM_011533723.1:c.1476A>T	XP_011532025.1:p.Lys492Asn
XM_011533724.1:c.1371A>T	XP_011532026.1:p.Lys457Asn
XM_011533725.1:c.1359A>T	XP_011532027.1:p.Lys453Asn
XM_011533726.1:c.1341A>T	XP_011532028.1:p.Lys447Asn
NM_001354604.1:c.1527A>T	NP_001341533.1:p.Lys509Asn
NM_001354605.1:c.1524A>T	NP_001341534.1:p.Lys508Asn
NM_001354606.1:c.1506A>T	NP_001341535.1:p.Lys502Asn
NM_001354607.1:c.1458A>T	NP_001341536.1:p.Lys486Asn
NM_001354608.1:c.1353A>T	NP_001341537.1:p.Lys451Asn
NM_001184967.2:c.1353A>T	NP_001171896.1:p.Lys451Asn
NM_001354604.2:c.1527A>T MANE Select	NP_001341533.1:p.Lys509Asn
NM_001354605.2:c.1524A>T	NP_001341534.1:p.Lys508Asn
NM_001354606.2:c.1506A>T	NP_001341535.1:p.Lys502Asn
NM_001354607.2:c.1458A>T	NP_001341536.1:p.Lys486Asn
NM_001354608.2:c.1353A>T	NP_001341537.1:p.Lys451Asn
NM_198158.3:c.1188A>T	NP_937801.1:p.Lys396Asn
NM_198159.3:c.1509A>T	NP_937802.1:p.Lys503Asn
NM_198177.3:c.1461A>T	NP_937820.1:p.Lys487Asn
NM_198178.3:c.1020A>T	NP_937821.2:p.Lys340Asn
NM_000248.4:c.1206A>T MANE Plus Clinical	NP_000239.1:p.Lys402Asn
NM_006722.3:c.1506A>T	NP_006713.1:p.Lys502Asn