Canonical Allele Identifier: CA353561690

Gene: MITF

Linked Data

• ClinVar Variation Id: 2579410
• ClinVar RCV Id: RCV003327845
• MyVariant Identifiers: chr3:g.70005606T>G (hg19) ; chr3:g.69956455T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.69956455T>G , CM000665.2:g.69956455T>G	GRCh38
NC_000003.11:g.70005606T>G , CM000665.1:g.70005606T>G	GRCh37
NC_000003.10:g.70088296T>G	NCBI36
NG_011631.1:g.221974T>G , LRG_776:g.221974T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000314589.11:c.890T>G	ENSP00000324443.5:p.Ile297Ser
ENST00000687384.1:c.887T>G	ENSP00000510225.1:p.Ile296Ser
ENST00000689390.1:n.1112T>G
ENST00000693031.1:c.863T>G	ENSP00000509845.1:p.Ile288Ser
ENST00000693549.1:c.890T>G	ENSP00000509358.1:p.Ile297Ser
ENST00000314589.10:c.890T>G	ENSP00000324443.5:p.Ile297Ser
ENST00000352241.9:c.956T>G MANE Select	ENSP00000295600.8:p.Ile319Ser
ENST00000394351.9:c.635T>G MANE Plus Clinical	ENSP00000377880.3:p.Ile212Ser
ENST00000448226.9:c.935T>G	ENSP00000391803.3:p.Ile312Ser
ENST00000642352.1:c.938T>G	ENSP00000494105.1:p.Ile313Ser
ENST00000314557.10:c.617T>G	ENSP00000324246.6:p.Ile206Ser
ENST00000314589.9:c.890T>G	ENSP00000324443.5:p.Ile297Ser
ENST00000328528.10:c.935T>G	ENSP00000327867.6:p.Ile312Ser
ENST00000352241.8:c.938T>G	ENSP00000295600.7:p.Ile313Ser
ENST00000394351.7:c.635T>G	ENSP00000377880.3:p.Ile212Ser
ENST00000448226.6:c.956T>G	ENSP00000391803.2:p.Ile319Ser
ENST00000451708.5:c.908T>G	ENSP00000398639.1:p.Ile303Ser
ENST00000472437.5:c.782T>G	ENSP00000418845.1:p.Ile261Ser
ENST00000478490.5:c.*282T>G	ENSP00000433487.1:n.*282T>G
ENST00000531774.1:c.449T>G	ENSP00000435909.1:p.Ile150Ser
NM_000248.3:c.635T>G , LRG_776t1:c.635T>G	NP_000239.1:p.Ile212Ser
NM_001184967.1:c.782T>G	NP_001171896.1:p.Ile261Ser
NM_006722.2:c.935T>G	NP_006713.1:p.Ile312Ser
NM_198158.2:c.617T>G	NP_937801.1:p.Ile206Ser
NM_198159.2:c.938T>G	NP_937802.1:p.Ile313Ser
NM_198177.2:c.890T>G	NP_937820.1:p.Ile297Ser
NM_198178.2:c.449T>G	NP_937821.2:p.Ile150Ser
XM_005264754.1:c.956T>G	XP_005264811.1:p.Ile319Ser
XM_005264755.2:c.908T>G	XP_005264812.1:p.Ile303Ser
XM_006713164.2:c.800T>G	XP_006713227.1:p.Ile267Ser
XM_011533722.1:c.953T>G	XP_011532024.1:p.Ile318Ser
XM_011533723.1:c.905T>G	XP_011532025.1:p.Ile302Ser
XM_011533724.1:c.800T>G	XP_011532026.1:p.Ile267Ser
XM_011533725.1:c.788T>G	XP_011532027.1:p.Ile263Ser
XM_011533726.1:c.770T>G	XP_011532028.1:p.Ile257Ser
NM_001354604.1:c.956T>G	NP_001341533.1:p.Ile319Ser
NM_001354605.1:c.953T>G	NP_001341534.1:p.Ile318Ser
NM_001354606.1:c.935T>G	NP_001341535.1:p.Ile312Ser
NM_001354607.1:c.887T>G	NP_001341536.1:p.Ile296Ser
NM_001354608.1:c.782T>G	NP_001341537.1:p.Ile261Ser
NM_001184967.2:c.782T>G	NP_001171896.1:p.Ile261Ser
NM_001354604.2:c.956T>G MANE Select	NP_001341533.1:p.Ile319Ser
NM_001354605.2:c.953T>G	NP_001341534.1:p.Ile318Ser
NM_001354606.2:c.935T>G	NP_001341535.1:p.Ile312Ser
NM_001354607.2:c.887T>G	NP_001341536.1:p.Ile296Ser
NM_001354608.2:c.782T>G	NP_001341537.1:p.Ile261Ser
NM_198158.3:c.617T>G	NP_937801.1:p.Ile206Ser
NM_198159.3:c.938T>G	NP_937802.1:p.Ile313Ser
NM_198177.3:c.890T>G	NP_937820.1:p.Ile297Ser
NM_198178.3:c.449T>G	NP_937821.2:p.Ile150Ser
NM_000248.4:c.635T>G MANE Plus Clinical	NP_000239.1:p.Ile212Ser
NM_006722.3:c.935T>G	NP_006713.1:p.Ile312Ser