Canonical Allele Identifier: CA16044011

Gene: MITF

Linked Data

• ClinVar Variation Id: 375216
• ClinVar RCV Id: RCV000416308 ; RCV000416288
• dbSNP Id: rs1057519326
• MyVariant Identifiers: chr3:g.70005620A>G (hg19) ; chr3:g.69956469A>G (hg38)
• PubMed: PMID:27889061

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.69956469A>G , CM000665.2:g.69956469A>G	GRCh38
NC_000003.11:g.70005620A>G , CM000665.1:g.70005620A>G	GRCh37
NC_000003.10:g.70088310A>G	NCBI36
NG_011631.1:g.221988A>G , LRG_776:g.221988A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000314589.11:c.904A>G	ENSP00000324443.5:p.Arg302Gly
ENST00000687384.1:c.901A>G	ENSP00000510225.1:p.Arg301Gly
ENST00000689390.1:n.1126A>G
ENST00000693031.1:c.877A>G	ENSP00000509845.1:p.Arg293Gly
ENST00000693549.1:c.904A>G	ENSP00000509358.1:p.Arg302Gly
ENST00000314589.10:c.904A>G	ENSP00000324443.5:p.Arg302Gly
ENST00000352241.9:c.970A>G MANE Select	ENSP00000295600.8:p.Arg324Gly
ENST00000394351.9:c.649A>G MANE Plus Clinical	ENSP00000377880.3:p.Arg217Gly
ENST00000448226.9:c.949A>G	ENSP00000391803.3:p.Arg317Gly
ENST00000642352.1:c.952A>G	ENSP00000494105.1:p.Arg318Gly
ENST00000314557.10:c.631A>G	ENSP00000324246.6:p.Arg211Gly
ENST00000314589.9:c.904A>G	ENSP00000324443.5:p.Arg302Gly
ENST00000328528.10:c.949A>G	ENSP00000327867.6:p.Arg317Gly
ENST00000352241.8:c.952A>G	ENSP00000295600.7:p.Arg318Gly
ENST00000394351.7:c.649A>G	ENSP00000377880.3:p.Arg217Gly
ENST00000448226.6:c.970A>G	ENSP00000391803.2:p.Arg324Gly
ENST00000451708.5:c.922A>G	ENSP00000398639.1:p.Arg308Gly
ENST00000472437.5:c.796A>G	ENSP00000418845.1:p.Arg266Gly
ENST00000478490.5:c.*296A>G	ENSP00000433487.1:n.*296A>G
ENST00000531774.1:c.463A>G	ENSP00000435909.1:p.Arg155Gly
NM_000248.3:c.649A>G , LRG_776t1:c.649A>G	NP_000239.1:p.Arg217Gly
NM_001184967.1:c.796A>G	NP_001171896.1:p.Arg266Gly
NM_006722.2:c.949A>G	NP_006713.1:p.Arg317Gly
NM_198158.2:c.631A>G	NP_937801.1:p.Arg211Gly
NM_198159.2:c.952A>G	NP_937802.1:p.Arg318Gly
NM_198177.2:c.904A>G	NP_937820.1:p.Arg302Gly
NM_198178.2:c.463A>G	NP_937821.2:p.Arg155Gly
XM_005264754.1:c.970A>G	XP_005264811.1:p.Arg324Gly
XM_005264755.2:c.922A>G	XP_005264812.1:p.Arg308Gly
XM_006713164.2:c.814A>G	XP_006713227.1:p.Arg272Gly
XM_011533722.1:c.967A>G	XP_011532024.1:p.Arg323Gly
XM_011533723.1:c.919A>G	XP_011532025.1:p.Arg307Gly
XM_011533724.1:c.814A>G	XP_011532026.1:p.Arg272Gly
XM_011533725.1:c.802A>G	XP_011532027.1:p.Arg268Gly
XM_011533726.1:c.784A>G	XP_011532028.1:p.Arg262Gly
NM_001354604.1:c.970A>G	NP_001341533.1:p.Arg324Gly
NM_001354605.1:c.967A>G	NP_001341534.1:p.Arg323Gly
NM_001354606.1:c.949A>G	NP_001341535.1:p.Arg317Gly
NM_001354607.1:c.901A>G	NP_001341536.1:p.Arg301Gly
NM_001354608.1:c.796A>G	NP_001341537.1:p.Arg266Gly
NM_001184967.2:c.796A>G	NP_001171896.1:p.Arg266Gly
NM_001354604.2:c.970A>G MANE Select	NP_001341533.1:p.Arg324Gly
NM_001354605.2:c.967A>G	NP_001341534.1:p.Arg323Gly
NM_001354606.2:c.949A>G	NP_001341535.1:p.Arg317Gly
NM_001354607.2:c.901A>G	NP_001341536.1:p.Arg301Gly
NM_001354608.2:c.796A>G	NP_001341537.1:p.Arg266Gly
NM_198158.3:c.631A>G	NP_937801.1:p.Arg211Gly
NM_198159.3:c.952A>G	NP_937802.1:p.Arg318Gly
NM_198177.3:c.904A>G	NP_937820.1:p.Arg302Gly
NM_198178.3:c.463A>G	NP_937821.2:p.Arg155Gly
NM_000248.4:c.649A>G MANE Plus Clinical	NP_000239.1:p.Arg217Gly
NM_006722.3:c.949A>G	NP_006713.1:p.Arg317Gly