Canonical Allele Identifier: CA2490292

Gene: MITF

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.69879345C>T , CM000665.2:g.69879345C>T	GRCh38
NC_000003.11:g.69928496C>T , CM000665.1:g.69928496C>T	GRCh37
NC_000003.10:g.70011186C>T	NCBI36
NG_011631.1:g.144864C>T , LRG_776:g.144864C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001354604.2:c.316C>T MANE Select	NP_001341533.1:p.Leu106Phe
ENST00000352241.9:c.316C>T MANE Select	ENSP00000295600.8:p.Leu106Phe
NM_001184967.1:c.160C>T	NP_001171896.1:p.Leu54Phe
NM_001184967.2:c.160C>T	NP_001171896.1:p.Leu54Phe
NM_001354604.1:c.316C>T	NP_001341533.1:p.Leu106Phe
NM_001354605.1:c.313C>T	NP_001341534.1:p.Leu105Phe
NM_001354605.2:c.313C>T	NP_001341534.1:p.Leu105Phe
NM_001354606.1:c.313C>T	NP_001341535.1:p.Leu105Phe
NM_001354606.2:c.313C>T	NP_001341535.1:p.Leu105Phe
NM_001354607.1:c.265C>T	NP_001341536.1:p.Leu89Phe
NM_001354607.2:c.265C>T	NP_001341536.1:p.Leu89Phe
NM_001354608.1:c.160C>T	NP_001341537.1:p.Leu54Phe
NM_001354608.2:c.160C>T	NP_001341537.1:p.Leu54Phe
NM_006722.2:c.313C>T	NP_006713.1:p.Leu105Phe
NM_006722.3:c.313C>T	NP_006713.1:p.Leu105Phe
NM_198159.2:c.316C>T	NP_937802.1:p.Leu106Phe
NM_198159.3:c.316C>T	NP_937802.1:p.Leu106Phe
NM_198177.2:c.268C>T	NP_937820.1:p.Leu90Phe
NM_198177.3:c.268C>T	NP_937820.1:p.Leu90Phe
ENST00000314589.10:c.268C>T	ENSP00000324443.5:p.Leu90Phe
ENST00000314589.11:c.268C>T	ENSP00000324443.5:p.Leu90Phe
ENST00000314589.9:c.268C>T	ENSP00000324443.5:p.Leu90Phe
ENST00000328528.10:c.313C>T	ENSP00000327867.6:p.Leu105Phe
ENST00000352241.8:c.316C>T	ENSP00000295600.7:p.Leu106Phe
ENST00000429090.5:c.160C>T	ENSP00000407620.1:p.Leu54Phe
ENST00000433517.5:c.160C>T	ENSP00000411389.1:p.Leu54Phe
ENST00000448226.6:c.316C>T	ENSP00000391803.2:p.Leu106Phe
ENST00000448226.9:c.313C>T	ENSP00000391803.3:p.Leu105Phe
ENST00000451708.5:c.268C>T	ENSP00000398639.1:p.Leu90Phe
ENST00000457080.5:c.313C>T	ENSP00000391276.1:p.Leu105Phe
ENST00000472437.5:c.160C>T	ENSP00000418845.1:p.Leu54Phe
ENST00000495741.1:n.471C>T
ENST00000642352.1:c.316C>T	ENSP00000494105.1:p.Leu106Phe
ENST00000687384.1:c.265C>T	ENSP00000510225.1:p.Leu89Phe
ENST00000689390.1:n.490C>T
ENST00000693031.1:c.316C>T	ENSP00000509845.1:p.Leu106Phe
ENST00000693549.1:c.268C>T	ENSP00000509358.1:p.Leu90Phe
XM_005264754.1:c.316C>T	XP_005264811.1:p.Leu106Phe
XM_005264755.2:c.268C>T	XP_005264812.1:p.Leu90Phe
XM_006713164.2:c.160C>T	XP_006713227.1:p.Leu54Phe
XM_011533722.1:c.313C>T	XP_011532024.1:p.Leu105Phe
XM_011533723.1:c.265C>T	XP_011532025.1:p.Leu89Phe
XM_011533724.1:c.160C>T	XP_011532026.1:p.Leu54Phe
XM_011533725.1:c.316C>T	XP_011532027.1:p.Leu106Phe
XM_011533726.1:c.316C>T	XP_011532028.1:p.Leu106Phe