Canonical Allele Identifier: CA353559649

Gene: MITF

Linked Data

• dbSNP Id: rs1425564214
• gnomAD v4: 3-69965010-T-G
• MyVariant Identifiers: chr3:g.70014161T>G (hg19) ; chr3:g.69965010T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.69965010T>G , CM000665.2:g.69965010T>G	GRCh38
NC_000003.11:g.70014161T>G , CM000665.1:g.70014161T>G	GRCh37
NC_000003.10:g.70096851T>G	NCBI36
NG_011631.1:g.230529T>G , LRG_776:g.230529T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000314589.11:c.1277T>G	ENSP00000324443.5:p.Leu426Arg
ENST00000687384.1:c.1274T>G	ENSP00000510225.1:p.Leu425Arg
ENST00000689390.1:n.1499T>G
ENST00000693031.1:c.1250T>G	ENSP00000509845.1:p.Leu417Arg
ENST00000693549.1:c.*88T>G	ENSP00000509358.1:n.*88T>G
ENST00000314589.10:c.1277T>G	ENSP00000324443.5:p.Leu426Arg
ENST00000352241.9:c.1343T>G MANE Select	ENSP00000295600.8:p.Leu448Arg
ENST00000394351.9:c.1022T>G MANE Plus Clinical	ENSP00000377880.3:p.Leu341Arg
ENST00000448226.9:c.1322T>G	ENSP00000391803.3:p.Leu441Arg
ENST00000642352.1:c.1325T>G	ENSP00000494105.1:p.Leu442Arg
ENST00000314557.10:c.1004T>G	ENSP00000324246.6:p.Leu335Arg
ENST00000314589.9:c.1277T>G	ENSP00000324443.5:p.Leu426Arg
ENST00000328528.10:c.1322T>G	ENSP00000327867.6:p.Leu441Arg
ENST00000352241.8:c.1325T>G	ENSP00000295600.7:p.Leu442Arg
ENST00000394351.7:c.1022T>G	ENSP00000377880.3:p.Leu341Arg
ENST00000448226.6:c.1343T>G	ENSP00000391803.2:p.Leu448Arg
ENST00000472437.5:c.1169T>G	ENSP00000418845.1:p.Leu390Arg
ENST00000478490.5:c.*669T>G	ENSP00000433487.1:n.*669T>G
ENST00000531774.1:c.836T>G	ENSP00000435909.1:p.Leu279Arg
NM_000248.3:c.1022T>G , LRG_776t1:c.1022T>G	NP_000239.1:p.Leu341Arg
NM_001184967.1:c.1169T>G	NP_001171896.1:p.Leu390Arg
NM_006722.2:c.1322T>G	NP_006713.1:p.Leu441Arg
NM_198158.2:c.1004T>G	NP_937801.1:p.Leu335Arg
NM_198159.2:c.1325T>G	NP_937802.1:p.Leu442Arg
NM_198177.2:c.1277T>G	NP_937820.1:p.Leu426Arg
NM_198178.2:c.836T>G	NP_937821.2:p.Leu279Arg
XM_005264754.1:c.1343T>G	XP_005264811.1:p.Leu448Arg
XM_005264755.2:c.1295T>G	XP_005264812.1:p.Leu432Arg
XM_006713164.2:c.1187T>G	XP_006713227.1:p.Leu396Arg
XM_011533722.1:c.1340T>G	XP_011532024.1:p.Leu447Arg
XM_011533723.1:c.1292T>G	XP_011532025.1:p.Leu431Arg
XM_011533724.1:c.1187T>G	XP_011532026.1:p.Leu396Arg
XM_011533725.1:c.1175T>G	XP_011532027.1:p.Leu392Arg
XM_011533726.1:c.1157T>G	XP_011532028.1:p.Leu386Arg
NM_001354604.1:c.1343T>G	NP_001341533.1:p.Leu448Arg
NM_001354605.1:c.1340T>G	NP_001341534.1:p.Leu447Arg
NM_001354606.1:c.1322T>G	NP_001341535.1:p.Leu441Arg
NM_001354607.1:c.1274T>G	NP_001341536.1:p.Leu425Arg
NM_001354608.1:c.1169T>G	NP_001341537.1:p.Leu390Arg
NM_001184967.2:c.1169T>G	NP_001171896.1:p.Leu390Arg
NM_001354604.2:c.1343T>G MANE Select	NP_001341533.1:p.Leu448Arg
NM_001354605.2:c.1340T>G	NP_001341534.1:p.Leu447Arg
NM_001354606.2:c.1322T>G	NP_001341535.1:p.Leu441Arg
NM_001354607.2:c.1274T>G	NP_001341536.1:p.Leu425Arg
NM_001354608.2:c.1169T>G	NP_001341537.1:p.Leu390Arg
NM_198158.3:c.1004T>G	NP_937801.1:p.Leu335Arg
NM_198159.3:c.1325T>G	NP_937802.1:p.Leu442Arg
NM_198177.3:c.1277T>G	NP_937820.1:p.Leu426Arg
NM_198178.3:c.836T>G	NP_937821.2:p.Leu279Arg
NM_000248.4:c.1022T>G MANE Plus Clinical	NP_000239.1:p.Leu341Arg
NM_006722.3:c.1322T>G	NP_006713.1:p.Leu441Arg