Canonical Allele Identifier: CA353559940

Gene: MITF

Linked Data

• MyVariant Identifiers: chr3:g.70014304A>C (hg19) ; chr3:g.69965153A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.69965153A>C , CM000665.2:g.69965153A>C	GRCh38
NC_000003.11:g.70014304A>C , CM000665.1:g.70014304A>C	GRCh37
NC_000003.10:g.70096994A>C	NCBI36
NG_011631.1:g.230672A>C , LRG_776:g.230672A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000314589.11:c.1420A>C	ENSP00000324443.5:p.Thr474Pro
ENST00000687384.1:c.1417A>C	ENSP00000510225.1:p.Thr473Pro
ENST00000689390.1:n.1642A>C
ENST00000693031.1:c.1393A>C	ENSP00000509845.1:p.Thr465Pro
ENST00000693549.1:c.*231A>C	ENSP00000509358.1:n.*231A>C
ENST00000314589.10:c.1420A>C	ENSP00000324443.5:p.Thr474Pro
ENST00000352241.9:c.1486A>C MANE Select	ENSP00000295600.8:p.Thr496Pro
ENST00000394351.9:c.1165A>C MANE Plus Clinical	ENSP00000377880.3:p.Thr389Pro
ENST00000448226.9:c.1465A>C	ENSP00000391803.3:p.Thr489Pro
ENST00000642352.1:c.1468A>C	ENSP00000494105.1:p.Thr490Pro
ENST00000314557.10:c.1147A>C	ENSP00000324246.6:p.Thr383Pro
ENST00000314589.9:c.1420A>C	ENSP00000324443.5:p.Thr474Pro
ENST00000328528.10:c.1465A>C	ENSP00000327867.6:p.Thr489Pro
ENST00000352241.8:c.1468A>C	ENSP00000295600.7:p.Thr490Pro
ENST00000394351.7:c.1165A>C	ENSP00000377880.3:p.Thr389Pro
ENST00000448226.6:c.1486A>C	ENSP00000391803.2:p.Thr496Pro
ENST00000472437.5:c.1312A>C	ENSP00000418845.1:p.Thr438Pro
ENST00000478490.5:c.*812A>C	ENSP00000433487.1:n.*812A>C
ENST00000531774.1:c.979A>C	ENSP00000435909.1:p.Thr327Pro
NM_000248.3:c.1165A>C , LRG_776t1:c.1165A>C	NP_000239.1:p.Thr389Pro
NM_001184967.1:c.1312A>C	NP_001171896.1:p.Thr438Pro
NM_006722.2:c.1465A>C	NP_006713.1:p.Thr489Pro
NM_198158.2:c.1147A>C	NP_937801.1:p.Thr383Pro
NM_198159.2:c.1468A>C	NP_937802.1:p.Thr490Pro
NM_198177.2:c.1420A>C	NP_937820.1:p.Thr474Pro
NM_198178.2:c.979A>C	NP_937821.2:p.Thr327Pro
XM_005264754.1:c.1486A>C	XP_005264811.1:p.Thr496Pro
XM_005264755.2:c.1438A>C	XP_005264812.1:p.Thr480Pro
XM_006713164.2:c.1330A>C	XP_006713227.1:p.Thr444Pro
XM_011533722.1:c.1483A>C	XP_011532024.1:p.Thr495Pro
XM_011533723.1:c.1435A>C	XP_011532025.1:p.Thr479Pro
XM_011533724.1:c.1330A>C	XP_011532026.1:p.Thr444Pro
XM_011533725.1:c.1318A>C	XP_011532027.1:p.Thr440Pro
XM_011533726.1:c.1300A>C	XP_011532028.1:p.Thr434Pro
NM_001354604.1:c.1486A>C	NP_001341533.1:p.Thr496Pro
NM_001354605.1:c.1483A>C	NP_001341534.1:p.Thr495Pro
NM_001354606.1:c.1465A>C	NP_001341535.1:p.Thr489Pro
NM_001354607.1:c.1417A>C	NP_001341536.1:p.Thr473Pro
NM_001354608.1:c.1312A>C	NP_001341537.1:p.Thr438Pro
NM_001184967.2:c.1312A>C	NP_001171896.1:p.Thr438Pro
NM_001354604.2:c.1486A>C MANE Select	NP_001341533.1:p.Thr496Pro
NM_001354605.2:c.1483A>C	NP_001341534.1:p.Thr495Pro
NM_001354606.2:c.1465A>C	NP_001341535.1:p.Thr489Pro
NM_001354607.2:c.1417A>C	NP_001341536.1:p.Thr473Pro
NM_001354608.2:c.1312A>C	NP_001341537.1:p.Thr438Pro
NM_198158.3:c.1147A>C	NP_937801.1:p.Thr383Pro
NM_198159.3:c.1468A>C	NP_937802.1:p.Thr490Pro
NM_198177.3:c.1420A>C	NP_937820.1:p.Thr474Pro
NM_198178.3:c.979A>C	NP_937821.2:p.Thr327Pro
NM_000248.4:c.1165A>C MANE Plus Clinical	NP_000239.1:p.Thr389Pro
NM_006722.3:c.1465A>C	NP_006713.1:p.Thr489Pro