Canonical Allele Identifier: CA2490580

Gene: MITF

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.69959391G>A , CM000665.2:g.69959391G>A	GRCh38
NC_000003.11:g.70008542G>A , CM000665.1:g.70008542G>A	GRCh37
NC_000003.10:g.70091232G>A	NCBI36
NG_011631.1:g.224910G>A , LRG_776:g.224910G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001354604.2:c.1150G>A MANE Select	NP_001341533.1:p.Ala384Thr
ENST00000352241.9:c.1150G>A MANE Select	ENSP00000295600.8:p.Ala384Thr
NM_000248.4:c.829G>A MANE Plus Clinical	NP_000239.1:p.Ala277Thr
ENST00000394351.9:c.829G>A MANE Plus Clinical	ENSP00000377880.3:p.Ala277Thr
NM_000248.3:c.829G>A , LRG_776t1:c.829G>A	NP_000239.1:p.Ala277Thr
NM_001184967.1:c.976G>A	NP_001171896.1:p.Ala326Thr
NM_001184967.2:c.976G>A	NP_001171896.1:p.Ala326Thr
NM_001354604.1:c.1150G>A	NP_001341533.1:p.Ala384Thr
NM_001354605.1:c.1147G>A	NP_001341534.1:p.Ala383Thr
NM_001354605.2:c.1147G>A	NP_001341534.1:p.Ala383Thr
NM_001354606.1:c.1129G>A	NP_001341535.1:p.Ala377Thr
NM_001354606.2:c.1129G>A	NP_001341535.1:p.Ala377Thr
NM_001354607.1:c.1081G>A	NP_001341536.1:p.Ala361Thr
NM_001354607.2:c.1081G>A	NP_001341536.1:p.Ala361Thr
NM_001354608.1:c.976G>A	NP_001341537.1:p.Ala326Thr
NM_001354608.2:c.976G>A	NP_001341537.1:p.Ala326Thr
NM_006722.2:c.1129G>A	NP_006713.1:p.Ala377Thr
NM_006722.3:c.1129G>A	NP_006713.1:p.Ala377Thr
NM_198158.2:c.811G>A	NP_937801.1:p.Ala271Thr
NM_198158.3:c.811G>A	NP_937801.1:p.Ala271Thr
NM_198159.2:c.1132G>A	NP_937802.1:p.Ala378Thr
NM_198159.3:c.1132G>A	NP_937802.1:p.Ala378Thr
NM_198177.2:c.1084G>A	NP_937820.1:p.Ala362Thr
NM_198177.3:c.1084G>A	NP_937820.1:p.Ala362Thr
NM_198178.2:c.643G>A	NP_937821.2:p.Ala215Thr
NM_198178.3:c.643G>A	NP_937821.2:p.Ala215Thr
ENST00000314557.10:c.811G>A	ENSP00000324246.6:p.Ala271Thr
ENST00000314589.10:c.1084G>A	ENSP00000324443.5:p.Ala362Thr
ENST00000314589.11:c.1084G>A	ENSP00000324443.5:p.Ala362Thr
ENST00000314589.9:c.1084G>A	ENSP00000324443.5:p.Ala362Thr
ENST00000328528.10:c.1129G>A	ENSP00000327867.6:p.Ala377Thr
ENST00000352241.8:c.1132G>A	ENSP00000295600.7:p.Ala378Thr
ENST00000394351.7:c.829G>A	ENSP00000377880.3:p.Ala277Thr
ENST00000448226.6:c.1150G>A	ENSP00000391803.2:p.Ala384Thr
ENST00000448226.9:c.1129G>A	ENSP00000391803.3:p.Ala377Thr
ENST00000472437.5:c.976G>A	ENSP00000418845.1:p.Ala326Thr
ENST00000478490.5:c.*476G>A	ENSP00000433487.1:n.*476G>A
ENST00000531774.1:c.643G>A	ENSP00000435909.1:p.Ala215Thr
ENST00000642352.1:c.1132G>A	ENSP00000494105.1:p.Ala378Thr
ENST00000687384.1:c.1081G>A	ENSP00000510225.1:p.Ala361Thr
ENST00000689390.1:n.1306G>A
ENST00000693031.1:c.1057G>A	ENSP00000509845.1:p.Ala353Thr
ENST00000693549.1:c.1084G>A	ENSP00000509358.1:p.Ala362Thr
XM_005264754.1:c.1150G>A	XP_005264811.1:p.Ala384Thr
XM_005264755.2:c.1102G>A	XP_005264812.1:p.Ala368Thr
XM_006713164.2:c.994G>A	XP_006713227.1:p.Ala332Thr
XM_011533722.1:c.1147G>A	XP_011532024.1:p.Ala383Thr
XM_011533723.1:c.1099G>A	XP_011532025.1:p.Ala367Thr
XM_011533724.1:c.994G>A	XP_011532026.1:p.Ala332Thr
XM_011533725.1:c.982G>A	XP_011532027.1:p.Ala328Thr
XM_011533726.1:c.964G>A	XP_011532028.1:p.Ala322Thr