Canonical Allele Identifier: CA16044010

Gene: MITF

Linked Data

• ClinVar Variation Id: 375215
• ClinVar RCV Id: RCV000416300 ; RCV000416286
• dbSNP Id: rs1057519325
• MyVariant Identifiers: chr3:g.70001021G>C (hg19) ; chr3:g.69951870G>C (hg38)
• PubMed: PMID:27889061

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.69951870G>C , CM000665.2:g.69951870G>C	GRCh38
NC_000003.11:g.70001021G>C , CM000665.1:g.70001021G>C	GRCh37
NC_000003.10:g.70083711G>C	NCBI36
NG_011631.1:g.217389G>C , LRG_776:g.217389G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000314589.11:c.873G>C	ENSP00000324443.5:p.Lys291Asn
ENST00000687384.1:c.870G>C	ENSP00000510225.1:p.Lys290Asn
ENST00000689390.1:n.1095G>C
ENST00000693031.1:c.846G>C	ENSP00000509845.1:p.Lys282Asn
ENST00000693549.1:c.873G>C	ENSP00000509358.1:p.Lys291Asn
ENST00000314589.10:c.873G>C	ENSP00000324443.5:p.Lys291Asn
ENST00000352241.9:c.939G>C MANE Select	ENSP00000295600.8:p.Lys313Asn
ENST00000394351.9:c.618G>C MANE Plus Clinical	ENSP00000377880.3:p.Lys206Asn
ENST00000448226.9:c.918G>C	ENSP00000391803.3:p.Lys306Asn
ENST00000642352.1:c.921G>C	ENSP00000494105.1:p.Lys307Asn
ENST00000314557.10:c.600G>C	ENSP00000324246.6:p.Lys200Asn
ENST00000314589.9:c.873G>C	ENSP00000324443.5:p.Lys291Asn
ENST00000328528.10:c.918G>C	ENSP00000327867.6:p.Lys306Asn
ENST00000352241.8:c.921G>C	ENSP00000295600.7:p.Lys307Asn
ENST00000394351.7:c.618G>C	ENSP00000377880.3:p.Lys206Asn
ENST00000448226.6:c.939G>C	ENSP00000391803.2:p.Lys313Asn
ENST00000451708.5:c.891G>C	ENSP00000398639.1:p.Lys297Asn
ENST00000472437.5:c.765G>C	ENSP00000418845.1:p.Lys255Asn
ENST00000478490.5:c.*265G>C	ENSP00000433487.1:n.*265G>C
ENST00000531774.1:c.432G>C	ENSP00000435909.1:p.Lys144Asn
NM_000248.3:c.618G>C , LRG_776t1:c.618G>C	NP_000239.1:p.Lys206Asn
NM_001184967.1:c.765G>C	NP_001171896.1:p.Lys255Asn
NM_006722.2:c.918G>C	NP_006713.1:p.Lys306Asn
NM_198158.2:c.600G>C	NP_937801.1:p.Lys200Asn
NM_198159.2:c.921G>C	NP_937802.1:p.Lys307Asn
NM_198177.2:c.873G>C	NP_937820.1:p.Lys291Asn
NM_198178.2:c.432G>C	NP_937821.2:p.Lys144Asn
XM_005264754.1:c.939G>C	XP_005264811.1:p.Lys313Asn
XM_005264755.2:c.891G>C	XP_005264812.1:p.Lys297Asn
XM_006713164.2:c.783G>C	XP_006713227.1:p.Lys261Asn
XM_011533722.1:c.936G>C	XP_011532024.1:p.Lys312Asn
XM_011533723.1:c.888G>C	XP_011532025.1:p.Lys296Asn
XM_011533724.1:c.783G>C	XP_011532026.1:p.Lys261Asn
XM_011533725.1:c.771G>C	XP_011532027.1:p.Lys257Asn
XM_011533726.1:c.753G>C	XP_011532028.1:p.Lys251Asn
NM_001354604.1:c.939G>C	NP_001341533.1:p.Lys313Asn
NM_001354605.1:c.936G>C	NP_001341534.1:p.Lys312Asn
NM_001354606.1:c.918G>C	NP_001341535.1:p.Lys306Asn
NM_001354607.1:c.870G>C	NP_001341536.1:p.Lys290Asn
NM_001354608.1:c.765G>C	NP_001341537.1:p.Lys255Asn
NM_001184967.2:c.765G>C	NP_001171896.1:p.Lys255Asn
NM_001354604.2:c.939G>C MANE Select	NP_001341533.1:p.Lys313Asn
NM_001354605.2:c.936G>C	NP_001341534.1:p.Lys312Asn
NM_001354606.2:c.918G>C	NP_001341535.1:p.Lys306Asn
NM_001354607.2:c.870G>C	NP_001341536.1:p.Lys290Asn
NM_001354608.2:c.765G>C	NP_001341537.1:p.Lys255Asn
NM_198158.3:c.600G>C	NP_937801.1:p.Lys200Asn
NM_198159.3:c.921G>C	NP_937802.1:p.Lys307Asn
NM_198177.3:c.873G>C	NP_937820.1:p.Lys291Asn
NM_198178.3:c.432G>C	NP_937821.2:p.Lys144Asn
NM_000248.4:c.618G>C MANE Plus Clinical	NP_000239.1:p.Lys206Asn
NM_006722.3:c.918G>C	NP_006713.1:p.Lys306Asn