Canonical Allele Identifier: CA353559998

Gene: MITF

Linked Data

• MyVariant Identifiers: chr3:g.70014332C>G (hg19) ; chr3:g.69965181C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.69965181C>G , CM000665.2:g.69965181C>G	GRCh38
NC_000003.11:g.70014332C>G , CM000665.1:g.70014332C>G	GRCh37
NC_000003.10:g.70097022C>G	NCBI36
NG_011631.1:g.230700C>G , LRG_776:g.230700C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000314589.11:c.1448C>G	ENSP00000324443.5:p.Pro483Arg
ENST00000687384.1:c.1445C>G	ENSP00000510225.1:p.Pro482Arg
ENST00000689390.1:n.1670C>G
ENST00000693031.1:c.1421C>G	ENSP00000509845.1:p.Pro474Arg
ENST00000693549.1:c.*259C>G	ENSP00000509358.1:n.*259C>G
ENST00000314589.10:c.1448C>G	ENSP00000324443.5:p.Pro483Arg
ENST00000352241.9:c.1514C>G MANE Select	ENSP00000295600.8:p.Pro505Arg
ENST00000394351.9:c.1193C>G MANE Plus Clinical	ENSP00000377880.3:p.Pro398Arg
ENST00000448226.9:c.1493C>G	ENSP00000391803.3:p.Pro498Arg
ENST00000642352.1:c.1496C>G	ENSP00000494105.1:p.Pro499Arg
ENST00000314557.10:c.1175C>G	ENSP00000324246.6:p.Pro392Arg
ENST00000314589.9:c.1448C>G	ENSP00000324443.5:p.Pro483Arg
ENST00000328528.10:c.1493C>G	ENSP00000327867.6:p.Pro498Arg
ENST00000352241.8:c.1496C>G	ENSP00000295600.7:p.Pro499Arg
ENST00000394351.7:c.1193C>G	ENSP00000377880.3:p.Pro398Arg
ENST00000448226.6:c.1514C>G	ENSP00000391803.2:p.Pro505Arg
ENST00000472437.5:c.1340C>G	ENSP00000418845.1:p.Pro447Arg
ENST00000478490.5:c.*840C>G	ENSP00000433487.1:n.*840C>G
ENST00000531774.1:c.1007C>G	ENSP00000435909.1:p.Pro336Arg
NM_000248.3:c.1193C>G , LRG_776t1:c.1193C>G	NP_000239.1:p.Pro398Arg
NM_001184967.1:c.1340C>G	NP_001171896.1:p.Pro447Arg
NM_006722.2:c.1493C>G	NP_006713.1:p.Pro498Arg
NM_198158.2:c.1175C>G	NP_937801.1:p.Pro392Arg
NM_198159.2:c.1496C>G	NP_937802.1:p.Pro499Arg
NM_198177.2:c.1448C>G	NP_937820.1:p.Pro483Arg
NM_198178.2:c.1007C>G	NP_937821.2:p.Pro336Arg
XM_005264754.1:c.1514C>G	XP_005264811.1:p.Pro505Arg
XM_005264755.2:c.1466C>G	XP_005264812.1:p.Pro489Arg
XM_006713164.2:c.1358C>G	XP_006713227.1:p.Pro453Arg
XM_011533722.1:c.1511C>G	XP_011532024.1:p.Pro504Arg
XM_011533723.1:c.1463C>G	XP_011532025.1:p.Pro488Arg
XM_011533724.1:c.1358C>G	XP_011532026.1:p.Pro453Arg
XM_011533725.1:c.1346C>G	XP_011532027.1:p.Pro449Arg
XM_011533726.1:c.1328C>G	XP_011532028.1:p.Pro443Arg
NM_001354604.1:c.1514C>G	NP_001341533.1:p.Pro505Arg
NM_001354605.1:c.1511C>G	NP_001341534.1:p.Pro504Arg
NM_001354606.1:c.1493C>G	NP_001341535.1:p.Pro498Arg
NM_001354607.1:c.1445C>G	NP_001341536.1:p.Pro482Arg
NM_001354608.1:c.1340C>G	NP_001341537.1:p.Pro447Arg
NM_001184967.2:c.1340C>G	NP_001171896.1:p.Pro447Arg
NM_001354604.2:c.1514C>G MANE Select	NP_001341533.1:p.Pro505Arg
NM_001354605.2:c.1511C>G	NP_001341534.1:p.Pro504Arg
NM_001354606.2:c.1493C>G	NP_001341535.1:p.Pro498Arg
NM_001354607.2:c.1445C>G	NP_001341536.1:p.Pro482Arg
NM_001354608.2:c.1340C>G	NP_001341537.1:p.Pro447Arg
NM_198158.3:c.1175C>G	NP_937801.1:p.Pro392Arg
NM_198159.3:c.1496C>G	NP_937802.1:p.Pro499Arg
NM_198177.3:c.1448C>G	NP_937820.1:p.Pro483Arg
NM_198178.3:c.1007C>G	NP_937821.2:p.Pro336Arg
NM_000248.4:c.1193C>G MANE Plus Clinical	NP_000239.1:p.Pro398Arg
NM_006722.3:c.1493C>G	NP_006713.1:p.Pro498Arg