Canonical Allele Identifier: CA353560010

Gene: MITF

Linked Data

• MyVariant Identifiers: chr3:g.70014340T>G (hg19) ; chr3:g.69965189T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.69965189T>G , CM000665.2:g.69965189T>G	GRCh38
NC_000003.11:g.70014340T>G , CM000665.1:g.70014340T>G	GRCh37
NC_000003.10:g.70097030T>G	NCBI36
NG_011631.1:g.230708T>G , LRG_776:g.230708T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000314589.11:c.1456T>G	ENSP00000324443.5:p.Ser486Ala
ENST00000687384.1:c.1453T>G	ENSP00000510225.1:p.Ser485Ala
ENST00000689390.1:n.1678T>G
ENST00000693031.1:c.1429T>G	ENSP00000509845.1:p.Ser477Ala
ENST00000693549.1:c.*267T>G	ENSP00000509358.1:n.*267T>G
ENST00000314589.10:c.1456T>G	ENSP00000324443.5:p.Ser486Ala
ENST00000352241.9:c.1522T>G MANE Select	ENSP00000295600.8:p.Ser508Ala
ENST00000394351.9:c.1201T>G MANE Plus Clinical	ENSP00000377880.3:p.Ser401Ala
ENST00000448226.9:c.1501T>G	ENSP00000391803.3:p.Ser501Ala
ENST00000642352.1:c.1504T>G	ENSP00000494105.1:p.Ser502Ala
ENST00000314557.10:c.1183T>G	ENSP00000324246.6:p.Ser395Ala
ENST00000314589.9:c.1456T>G	ENSP00000324443.5:p.Ser486Ala
ENST00000328528.10:c.1501T>G	ENSP00000327867.6:p.Ser501Ala
ENST00000352241.8:c.1504T>G	ENSP00000295600.7:p.Ser502Ala
ENST00000394351.7:c.1201T>G	ENSP00000377880.3:p.Ser401Ala
ENST00000448226.6:c.1522T>G	ENSP00000391803.2:p.Ser508Ala
ENST00000472437.5:c.1348T>G	ENSP00000418845.1:p.Ser450Ala
ENST00000478490.5:c.*848T>G	ENSP00000433487.1:n.*848T>G
ENST00000531774.1:c.1015T>G	ENSP00000435909.1:p.Ser339Ala
NM_000248.3:c.1201T>G , LRG_776t1:c.1201T>G	NP_000239.1:p.Ser401Ala
NM_001184967.1:c.1348T>G	NP_001171896.1:p.Ser450Ala
NM_006722.2:c.1501T>G	NP_006713.1:p.Ser501Ala
NM_198158.2:c.1183T>G	NP_937801.1:p.Ser395Ala
NM_198159.2:c.1504T>G	NP_937802.1:p.Ser502Ala
NM_198177.2:c.1456T>G	NP_937820.1:p.Ser486Ala
NM_198178.2:c.1015T>G	NP_937821.2:p.Ser339Ala
XM_005264754.1:c.1522T>G	XP_005264811.1:p.Ser508Ala
XM_005264755.2:c.1474T>G	XP_005264812.1:p.Ser492Ala
XM_006713164.2:c.1366T>G	XP_006713227.1:p.Ser456Ala
XM_011533722.1:c.1519T>G	XP_011532024.1:p.Ser507Ala
XM_011533723.1:c.1471T>G	XP_011532025.1:p.Ser491Ala
XM_011533724.1:c.1366T>G	XP_011532026.1:p.Ser456Ala
XM_011533725.1:c.1354T>G	XP_011532027.1:p.Ser452Ala
XM_011533726.1:c.1336T>G	XP_011532028.1:p.Ser446Ala
NM_001354604.1:c.1522T>G	NP_001341533.1:p.Ser508Ala
NM_001354605.1:c.1519T>G	NP_001341534.1:p.Ser507Ala
NM_001354606.1:c.1501T>G	NP_001341535.1:p.Ser501Ala
NM_001354607.1:c.1453T>G	NP_001341536.1:p.Ser485Ala
NM_001354608.1:c.1348T>G	NP_001341537.1:p.Ser450Ala
NM_001184967.2:c.1348T>G	NP_001171896.1:p.Ser450Ala
NM_001354604.2:c.1522T>G MANE Select	NP_001341533.1:p.Ser508Ala
NM_001354605.2:c.1519T>G	NP_001341534.1:p.Ser507Ala
NM_001354606.2:c.1501T>G	NP_001341535.1:p.Ser501Ala
NM_001354607.2:c.1453T>G	NP_001341536.1:p.Ser485Ala
NM_001354608.2:c.1348T>G	NP_001341537.1:p.Ser450Ala
NM_198158.3:c.1183T>G	NP_937801.1:p.Ser395Ala
NM_198159.3:c.1504T>G	NP_937802.1:p.Ser502Ala
NM_198177.3:c.1456T>G	NP_937820.1:p.Ser486Ala
NM_198178.3:c.1015T>G	NP_937821.2:p.Ser339Ala
NM_000248.4:c.1201T>G MANE Plus Clinical	NP_000239.1:p.Ser401Ala
NM_006722.3:c.1501T>G	NP_006713.1:p.Ser501Ala