Canonical Allele Identifier: CA128649

Gene: MITF

Linked Data

• ClinVar Variation Id: 29792
• ClinVar RCV Id: RCV000022661 ; RCV000129682 ; RCV000222278 ; RCV000484916 ; RCV000627790 ; RCV001195106 ; RCV001535706 ; RCV002247378 ; RCV002490402
• dbSNP Id: rs149617956
• ExAC: 3:70014091 G / A
• gnomAD v2: 3-70014091-G-A
• gnomAD v3: 3-69964940-G-A
• gnomAD v4: 3-69964940-G-A
• MyVariant Identifiers: chr3:g.70014091G>A (hg19) ; chr3:g.69964940G>A (hg38)
• PubMed: PMID:2440678 ; PMID:22012259 ; PMID:22080950 ; PMID:22158021 ; PMID:23046018 ; PMID:23787126 ; PMID:23802662 ; PMID:24290354 ; PMID:24352080 ; PMID:24406078 ; PMID:24660985 ; PMID:24767713 ; PMID:25803691 ; PMID:26650189 ; PMID:26775776 ; PMID:26800492 ; PMID:27153395 ; PMID:27473757 ; PMID:27680874

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.69964940G>A , CM000665.2:g.69964940G>A	GRCh38
NC_000003.11:g.70014091G>A , CM000665.1:g.70014091G>A	GRCh37
NC_000003.10:g.70096781G>A	NCBI36
NG_011631.1:g.230459G>A , LRG_776:g.230459G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000314589.11:c.1207G>A	ENSP00000324443.5:p.Glu403Lys
ENST00000687384.1:c.1204G>A	ENSP00000510225.1:p.Glu402Lys
ENST00000689390.1:n.1429G>A
ENST00000693031.1:c.1180G>A	ENSP00000509845.1:p.Glu394Lys
ENST00000693549.1:c.*18G>A	ENSP00000509358.1:n.*18G>A
ENST00000314589.10:c.1207G>A	ENSP00000324443.5:p.Glu403Lys
ENST00000352241.9:c.1273G>A MANE Select	ENSP00000295600.8:p.Glu425Lys
ENST00000394351.9:c.952G>A MANE Plus Clinical	ENSP00000377880.3:p.Glu318Lys
ENST00000448226.9:c.1252G>A	ENSP00000391803.3:p.Glu418Lys
ENST00000642352.1:c.1255G>A	ENSP00000494105.1:p.Glu419Lys
ENST00000314557.10:c.934G>A	ENSP00000324246.6:p.Glu312Lys
ENST00000314589.9:c.1207G>A	ENSP00000324443.5:p.Glu403Lys
ENST00000328528.10:c.1252G>A	ENSP00000327867.6:p.Glu418Lys
ENST00000352241.8:c.1255G>A	ENSP00000295600.7:p.Glu419Lys
ENST00000394351.7:c.952G>A	ENSP00000377880.3:p.Glu318Lys
ENST00000448226.6:c.1273G>A	ENSP00000391803.2:p.Glu425Lys
ENST00000472437.5:c.1099G>A	ENSP00000418845.1:p.Glu367Lys
ENST00000478490.5:c.*599G>A	ENSP00000433487.1:n.*599G>A
ENST00000531774.1:c.766G>A	ENSP00000435909.1:p.Glu256Lys
NM_000248.3:c.952G>A , LRG_776t1:c.952G>A	NP_000239.1:p.Glu318Lys
NM_001184967.1:c.1099G>A	NP_001171896.1:p.Glu367Lys
NM_006722.2:c.1252G>A	NP_006713.1:p.Glu418Lys
NM_198158.2:c.934G>A	NP_937801.1:p.Glu312Lys
NM_198159.2:c.1255G>A	NP_937802.1:p.Glu419Lys
NM_198177.2:c.1207G>A	NP_937820.1:p.Glu403Lys
NM_198178.2:c.766G>A	NP_937821.2:p.Glu256Lys
XM_005264754.1:c.1273G>A	XP_005264811.1:p.Glu425Lys
XM_005264755.2:c.1225G>A	XP_005264812.1:p.Glu409Lys
XM_006713164.2:c.1117G>A	XP_006713227.1:p.Glu373Lys
XM_011533722.1:c.1270G>A	XP_011532024.1:p.Glu424Lys
XM_011533723.1:c.1222G>A	XP_011532025.1:p.Glu408Lys
XM_011533724.1:c.1117G>A	XP_011532026.1:p.Glu373Lys
XM_011533725.1:c.1105G>A	XP_011532027.1:p.Glu369Lys
XM_011533726.1:c.1087G>A	XP_011532028.1:p.Glu363Lys
NM_001354604.1:c.1273G>A	NP_001341533.1:p.Glu425Lys
NM_001354605.1:c.1270G>A	NP_001341534.1:p.Glu424Lys
NM_001354606.1:c.1252G>A	NP_001341535.1:p.Glu418Lys
NM_001354607.1:c.1204G>A	NP_001341536.1:p.Glu402Lys
NM_001354608.1:c.1099G>A	NP_001341537.1:p.Glu367Lys
NM_001184967.2:c.1099G>A	NP_001171896.1:p.Glu367Lys
NM_001354604.2:c.1273G>A MANE Select	NP_001341533.1:p.Glu425Lys
NM_001354605.2:c.1270G>A	NP_001341534.1:p.Glu424Lys
NM_001354606.2:c.1252G>A	NP_001341535.1:p.Glu418Lys
NM_001354607.2:c.1204G>A	NP_001341536.1:p.Glu402Lys
NM_001354608.2:c.1099G>A	NP_001341537.1:p.Glu367Lys
NM_198158.3:c.934G>A	NP_937801.1:p.Glu312Lys
NM_198159.3:c.1255G>A	NP_937802.1:p.Glu419Lys
NM_198177.3:c.1207G>A	NP_937820.1:p.Glu403Lys
NM_198178.3:c.766G>A	NP_937821.2:p.Glu256Lys
NM_000248.4:c.952G>A MANE Plus Clinical	NP_000239.1:p.Glu318Lys
NM_006722.3:c.1252G>A	NP_006713.1:p.Glu418Lys