Canonical Allele Identifier: CA353559766

Gene: MITF

Linked Data

• MyVariant Identifiers: chr3:g.70014220A>C (hg19) ; chr3:g.69965069A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.69965069A>C , CM000665.2:g.69965069A>C	GRCh38
NC_000003.11:g.70014220A>C , CM000665.1:g.70014220A>C	GRCh37
NC_000003.10:g.70096910A>C	NCBI36
NG_011631.1:g.230588A>C , LRG_776:g.230588A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000314589.11:c.1336A>C	ENSP00000324443.5:p.Asn446His
ENST00000687384.1:c.1333A>C	ENSP00000510225.1:p.Asn445His
ENST00000689390.1:n.1558A>C
ENST00000693031.1:c.1309A>C	ENSP00000509845.1:p.Asn437His
ENST00000693549.1:c.*147A>C	ENSP00000509358.1:n.*147A>C
ENST00000314589.10:c.1336A>C	ENSP00000324443.5:p.Asn446His
ENST00000352241.9:c.1402A>C MANE Select	ENSP00000295600.8:p.Asn468His
ENST00000394351.9:c.1081A>C MANE Plus Clinical	ENSP00000377880.3:p.Asn361His
ENST00000448226.9:c.1381A>C	ENSP00000391803.3:p.Asn461His
ENST00000642352.1:c.1384A>C	ENSP00000494105.1:p.Asn462His
ENST00000314557.10:c.1063A>C	ENSP00000324246.6:p.Asn355His
ENST00000314589.9:c.1336A>C	ENSP00000324443.5:p.Asn446His
ENST00000328528.10:c.1381A>C	ENSP00000327867.6:p.Asn461His
ENST00000352241.8:c.1384A>C	ENSP00000295600.7:p.Asn462His
ENST00000394351.7:c.1081A>C	ENSP00000377880.3:p.Asn361His
ENST00000448226.6:c.1402A>C	ENSP00000391803.2:p.Asn468His
ENST00000472437.5:c.1228A>C	ENSP00000418845.1:p.Asn410His
ENST00000478490.5:c.*728A>C	ENSP00000433487.1:n.*728A>C
ENST00000531774.1:c.895A>C	ENSP00000435909.1:p.Asn299His
NM_000248.3:c.1081A>C , LRG_776t1:c.1081A>C	NP_000239.1:p.Asn361His
NM_001184967.1:c.1228A>C	NP_001171896.1:p.Asn410His
NM_006722.2:c.1381A>C	NP_006713.1:p.Asn461His
NM_198158.2:c.1063A>C	NP_937801.1:p.Asn355His
NM_198159.2:c.1384A>C	NP_937802.1:p.Asn462His
NM_198177.2:c.1336A>C	NP_937820.1:p.Asn446His
NM_198178.2:c.895A>C	NP_937821.2:p.Asn299His
XM_005264754.1:c.1402A>C	XP_005264811.1:p.Asn468His
XM_005264755.2:c.1354A>C	XP_005264812.1:p.Asn452His
XM_006713164.2:c.1246A>C	XP_006713227.1:p.Asn416His
XM_011533722.1:c.1399A>C	XP_011532024.1:p.Asn467His
XM_011533723.1:c.1351A>C	XP_011532025.1:p.Asn451His
XM_011533724.1:c.1246A>C	XP_011532026.1:p.Asn416His
XM_011533725.1:c.1234A>C	XP_011532027.1:p.Asn412His
XM_011533726.1:c.1216A>C	XP_011532028.1:p.Asn406His
NM_001354604.1:c.1402A>C	NP_001341533.1:p.Asn468His
NM_001354605.1:c.1399A>C	NP_001341534.1:p.Asn467His
NM_001354606.1:c.1381A>C	NP_001341535.1:p.Asn461His
NM_001354607.1:c.1333A>C	NP_001341536.1:p.Asn445His
NM_001354608.1:c.1228A>C	NP_001341537.1:p.Asn410His
NM_001184967.2:c.1228A>C	NP_001171896.1:p.Asn410His
NM_001354604.2:c.1402A>C MANE Select	NP_001341533.1:p.Asn468His
NM_001354605.2:c.1399A>C	NP_001341534.1:p.Asn467His
NM_001354606.2:c.1381A>C	NP_001341535.1:p.Asn461His
NM_001354607.2:c.1333A>C	NP_001341536.1:p.Asn445His
NM_001354608.2:c.1228A>C	NP_001341537.1:p.Asn410His
NM_198158.3:c.1063A>C	NP_937801.1:p.Asn355His
NM_198159.3:c.1384A>C	NP_937802.1:p.Asn462His
NM_198177.3:c.1336A>C	NP_937820.1:p.Asn446His
NM_198178.3:c.895A>C	NP_937821.2:p.Asn299His
NM_000248.4:c.1081A>C MANE Plus Clinical	NP_000239.1:p.Asn361His
NM_006722.3:c.1381A>C	NP_006713.1:p.Asn461His