Canonical Allele Identifier: CA353561720

Gene: MITF

Linked Data

• COSMIC: COSM1257733 ; COSM1257734
• MyVariant Identifiers: chr3:g.70005621G>T (hg19) ; chr3:g.69956470G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.69956470G>T , CM000665.2:g.69956470G>T	GRCh38
NC_000003.11:g.70005621G>T , CM000665.1:g.70005621G>T	GRCh37
NC_000003.10:g.70088311G>T	NCBI36
NG_011631.1:g.221989G>T , LRG_776:g.221989G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000314589.11:c.905G>T	ENSP00000324443.5:p.Arg302Ile
ENST00000687384.1:c.902G>T	ENSP00000510225.1:p.Arg301Ile
ENST00000689390.1:n.1127G>T
ENST00000693031.1:c.878G>T	ENSP00000509845.1:p.Arg293Ile
ENST00000693549.1:c.905G>T	ENSP00000509358.1:p.Arg302Ile
ENST00000314589.10:c.905G>T	ENSP00000324443.5:p.Arg302Ile
ENST00000352241.9:c.971G>T MANE Select	ENSP00000295600.8:p.Arg324Ile
ENST00000394351.9:c.650G>T MANE Plus Clinical	ENSP00000377880.3:p.Arg217Ile
ENST00000448226.9:c.950G>T	ENSP00000391803.3:p.Arg317Ile
ENST00000642352.1:c.953G>T	ENSP00000494105.1:p.Arg318Ile
ENST00000314557.10:c.632G>T	ENSP00000324246.6:p.Arg211Ile
ENST00000314589.9:c.905G>T	ENSP00000324443.5:p.Arg302Ile
ENST00000328528.10:c.950G>T	ENSP00000327867.6:p.Arg317Ile
ENST00000352241.8:c.953G>T	ENSP00000295600.7:p.Arg318Ile
ENST00000394351.7:c.650G>T	ENSP00000377880.3:p.Arg217Ile
ENST00000448226.6:c.971G>T	ENSP00000391803.2:p.Arg324Ile
ENST00000451708.5:c.923G>T	ENSP00000398639.1:p.Arg308Ile
ENST00000472437.5:c.797G>T	ENSP00000418845.1:p.Arg266Ile
ENST00000478490.5:c.*297G>T	ENSP00000433487.1:n.*297G>T
ENST00000531774.1:c.464G>T	ENSP00000435909.1:p.Arg155Ile
NM_000248.3:c.650G>T , LRG_776t1:c.650G>T	NP_000239.1:p.Arg217Ile
NM_001184967.1:c.797G>T	NP_001171896.1:p.Arg266Ile
NM_006722.2:c.950G>T	NP_006713.1:p.Arg317Ile
NM_198158.2:c.632G>T	NP_937801.1:p.Arg211Ile
NM_198159.2:c.953G>T	NP_937802.1:p.Arg318Ile
NM_198177.2:c.905G>T	NP_937820.1:p.Arg302Ile
NM_198178.2:c.464G>T	NP_937821.2:p.Arg155Ile
XM_005264754.1:c.971G>T	XP_005264811.1:p.Arg324Ile
XM_005264755.2:c.923G>T	XP_005264812.1:p.Arg308Ile
XM_006713164.2:c.815G>T	XP_006713227.1:p.Arg272Ile
XM_011533722.1:c.968G>T	XP_011532024.1:p.Arg323Ile
XM_011533723.1:c.920G>T	XP_011532025.1:p.Arg307Ile
XM_011533724.1:c.815G>T	XP_011532026.1:p.Arg272Ile
XM_011533725.1:c.803G>T	XP_011532027.1:p.Arg268Ile
XM_011533726.1:c.785G>T	XP_011532028.1:p.Arg262Ile
NM_001354604.1:c.971G>T	NP_001341533.1:p.Arg324Ile
NM_001354605.1:c.968G>T	NP_001341534.1:p.Arg323Ile
NM_001354606.1:c.950G>T	NP_001341535.1:p.Arg317Ile
NM_001354607.1:c.902G>T	NP_001341536.1:p.Arg301Ile
NM_001354608.1:c.797G>T	NP_001341537.1:p.Arg266Ile
NM_001184967.2:c.797G>T	NP_001171896.1:p.Arg266Ile
NM_001354604.2:c.971G>T MANE Select	NP_001341533.1:p.Arg324Ile
NM_001354605.2:c.968G>T	NP_001341534.1:p.Arg323Ile
NM_001354606.2:c.950G>T	NP_001341535.1:p.Arg317Ile
NM_001354607.2:c.902G>T	NP_001341536.1:p.Arg301Ile
NM_001354608.2:c.797G>T	NP_001341537.1:p.Arg266Ile
NM_198158.3:c.632G>T	NP_937801.1:p.Arg211Ile
NM_198159.3:c.953G>T	NP_937802.1:p.Arg318Ile
NM_198177.3:c.905G>T	NP_937820.1:p.Arg302Ile
NM_198178.3:c.464G>T	NP_937821.2:p.Arg155Ile
NM_000248.4:c.650G>T MANE Plus Clinical	NP_000239.1:p.Arg217Ile
NM_006722.3:c.950G>T	NP_006713.1:p.Arg317Ile