Canonical Allele Identifier: CA353560016

Gene: MITF

Linked Data

• MyVariant Identifiers: chr3:g.70014343A>T (hg19) ; chr3:g.69965192A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.69965192A>T , CM000665.2:g.69965192A>T	GRCh38
NC_000003.11:g.70014343A>T , CM000665.1:g.70014343A>T	GRCh37
NC_000003.10:g.70097033A>T	NCBI36
NG_011631.1:g.230711A>T , LRG_776:g.230711A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000314589.11:c.1459A>T	ENSP00000324443.5:p.Lys487Ter
ENST00000687384.1:c.1456A>T	ENSP00000510225.1:p.Lys486Ter
ENST00000689390.1:n.1681A>T
ENST00000693031.1:c.1432A>T	ENSP00000509845.1:p.Lys478Ter
ENST00000693549.1:c.*270A>T	ENSP00000509358.1:n.*270A>T
ENST00000314589.10:c.1459A>T	ENSP00000324443.5:p.Lys487Ter
ENST00000352241.9:c.1525A>T MANE Select	ENSP00000295600.8:p.Lys509Ter
ENST00000394351.9:c.1204A>T MANE Plus Clinical	ENSP00000377880.3:p.Lys402Ter
ENST00000448226.9:c.1504A>T	ENSP00000391803.3:p.Lys502Ter
ENST00000642352.1:c.1507A>T	ENSP00000494105.1:p.Lys503Ter
ENST00000314557.10:c.1186A>T	ENSP00000324246.6:p.Lys396Ter
ENST00000314589.9:c.1459A>T	ENSP00000324443.5:p.Lys487Ter
ENST00000328528.10:c.1504A>T	ENSP00000327867.6:p.Lys502Ter
ENST00000352241.8:c.1507A>T	ENSP00000295600.7:p.Lys503Ter
ENST00000394351.7:c.1204A>T	ENSP00000377880.3:p.Lys402Ter
ENST00000448226.6:c.1525A>T	ENSP00000391803.2:p.Lys509Ter
ENST00000472437.5:c.1351A>T	ENSP00000418845.1:p.Lys451Ter
ENST00000478490.5:c.*851A>T	ENSP00000433487.1:n.*851A>T
ENST00000531774.1:c.1018A>T	ENSP00000435909.1:p.Lys340Ter
NM_000248.3:c.1204A>T , LRG_776t1:c.1204A>T	NP_000239.1:p.Lys402Ter
NM_001184967.1:c.1351A>T	NP_001171896.1:p.Lys451Ter
NM_006722.2:c.1504A>T	NP_006713.1:p.Lys502Ter
NM_198158.2:c.1186A>T	NP_937801.1:p.Lys396Ter
NM_198159.2:c.1507A>T	NP_937802.1:p.Lys503Ter
NM_198177.2:c.1459A>T	NP_937820.1:p.Lys487Ter
NM_198178.2:c.1018A>T	NP_937821.2:p.Lys340Ter
XM_005264754.1:c.1525A>T	XP_005264811.1:p.Lys509Ter
XM_005264755.2:c.1477A>T	XP_005264812.1:p.Lys493Ter
XM_006713164.2:c.1369A>T	XP_006713227.1:p.Lys457Ter
XM_011533722.1:c.1522A>T	XP_011532024.1:p.Lys508Ter
XM_011533723.1:c.1474A>T	XP_011532025.1:p.Lys492Ter
XM_011533724.1:c.1369A>T	XP_011532026.1:p.Lys457Ter
XM_011533725.1:c.1357A>T	XP_011532027.1:p.Lys453Ter
XM_011533726.1:c.1339A>T	XP_011532028.1:p.Lys447Ter
NM_001354604.1:c.1525A>T	NP_001341533.1:p.Lys509Ter
NM_001354605.1:c.1522A>T	NP_001341534.1:p.Lys508Ter
NM_001354606.1:c.1504A>T	NP_001341535.1:p.Lys502Ter
NM_001354607.1:c.1456A>T	NP_001341536.1:p.Lys486Ter
NM_001354608.1:c.1351A>T	NP_001341537.1:p.Lys451Ter
NM_001184967.2:c.1351A>T	NP_001171896.1:p.Lys451Ter
NM_001354604.2:c.1525A>T MANE Select	NP_001341533.1:p.Lys509Ter
NM_001354605.2:c.1522A>T	NP_001341534.1:p.Lys508Ter
NM_001354606.2:c.1504A>T	NP_001341535.1:p.Lys502Ter
NM_001354607.2:c.1456A>T	NP_001341536.1:p.Lys486Ter
NM_001354608.2:c.1351A>T	NP_001341537.1:p.Lys451Ter
NM_198158.3:c.1186A>T	NP_937801.1:p.Lys396Ter
NM_198159.3:c.1507A>T	NP_937802.1:p.Lys503Ter
NM_198177.3:c.1459A>T	NP_937820.1:p.Lys487Ter
NM_198178.3:c.1018A>T	NP_937821.2:p.Lys340Ter
NM_000248.4:c.1204A>T MANE Plus Clinical	NP_000239.1:p.Lys402Ter
NM_006722.3:c.1504A>T	NP_006713.1:p.Lys502Ter