Canonical Allele Identifier: CA353561739

Gene: MITF

Linked Data

• ClinVar Variation Id: 1330231
• ClinVar RCV Id: RCV001801263
• dbSNP Id: rs2107529990
• MyVariant Identifiers: chr3:g.70005629A>C (hg19) ; chr3:g.69956478A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.69956478A>C , CM000665.2:g.69956478A>C	GRCh38
NC_000003.11:g.70005629A>C , CM000665.1:g.70005629A>C	GRCh37
NC_000003.10:g.70088319A>C	NCBI36
NG_011631.1:g.221997A>C , LRG_776:g.221997A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000314589.11:c.913A>C	ENSP00000324443.5:p.Ile305Leu
ENST00000687384.1:c.910A>C	ENSP00000510225.1:p.Ile304Leu
ENST00000689390.1:n.1135A>C
ENST00000693031.1:c.886A>C	ENSP00000509845.1:p.Ile296Leu
ENST00000693549.1:c.913A>C	ENSP00000509358.1:p.Ile305Leu
ENST00000314589.10:c.913A>C	ENSP00000324443.5:p.Ile305Leu
ENST00000352241.9:c.979A>C MANE Select	ENSP00000295600.8:p.Ile327Leu
ENST00000394351.9:c.658A>C MANE Plus Clinical	ENSP00000377880.3:p.Ile220Leu
ENST00000448226.9:c.958A>C	ENSP00000391803.3:p.Ile320Leu
ENST00000642352.1:c.961A>C	ENSP00000494105.1:p.Ile321Leu
ENST00000314557.10:c.640A>C	ENSP00000324246.6:p.Ile214Leu
ENST00000314589.9:c.913A>C	ENSP00000324443.5:p.Ile305Leu
ENST00000328528.10:c.958A>C	ENSP00000327867.6:p.Ile320Leu
ENST00000352241.8:c.961A>C	ENSP00000295600.7:p.Ile321Leu
ENST00000394351.7:c.658A>C	ENSP00000377880.3:p.Ile220Leu
ENST00000448226.6:c.979A>C	ENSP00000391803.2:p.Ile327Leu
ENST00000451708.5:c.931A>C	ENSP00000398639.1:p.Ile311Leu
ENST00000472437.5:c.805A>C	ENSP00000418845.1:p.Ile269Leu
ENST00000478490.5:c.*305A>C	ENSP00000433487.1:n.*305A>C
ENST00000531774.1:c.472A>C	ENSP00000435909.1:p.Ile158Leu
NM_000248.3:c.658A>C , LRG_776t1:c.658A>C	NP_000239.1:p.Ile220Leu
NM_001184967.1:c.805A>C	NP_001171896.1:p.Ile269Leu
NM_006722.2:c.958A>C	NP_006713.1:p.Ile320Leu
NM_198158.2:c.640A>C	NP_937801.1:p.Ile214Leu
NM_198159.2:c.961A>C	NP_937802.1:p.Ile321Leu
NM_198177.2:c.913A>C	NP_937820.1:p.Ile305Leu
NM_198178.2:c.472A>C	NP_937821.2:p.Ile158Leu
XM_005264754.1:c.979A>C	XP_005264811.1:p.Ile327Leu
XM_005264755.2:c.931A>C	XP_005264812.1:p.Ile311Leu
XM_006713164.2:c.823A>C	XP_006713227.1:p.Ile275Leu
XM_011533722.1:c.976A>C	XP_011532024.1:p.Ile326Leu
XM_011533723.1:c.928A>C	XP_011532025.1:p.Ile310Leu
XM_011533724.1:c.823A>C	XP_011532026.1:p.Ile275Leu
XM_011533725.1:c.811A>C	XP_011532027.1:p.Ile271Leu
XM_011533726.1:c.793A>C	XP_011532028.1:p.Ile265Leu
NM_001354604.1:c.979A>C	NP_001341533.1:p.Ile327Leu
NM_001354605.1:c.976A>C	NP_001341534.1:p.Ile326Leu
NM_001354606.1:c.958A>C	NP_001341535.1:p.Ile320Leu
NM_001354607.1:c.910A>C	NP_001341536.1:p.Ile304Leu
NM_001354608.1:c.805A>C	NP_001341537.1:p.Ile269Leu
NM_001184967.2:c.805A>C	NP_001171896.1:p.Ile269Leu
NM_001354604.2:c.979A>C MANE Select	NP_001341533.1:p.Ile327Leu
NM_001354605.2:c.976A>C	NP_001341534.1:p.Ile326Leu
NM_001354606.2:c.958A>C	NP_001341535.1:p.Ile320Leu
NM_001354607.2:c.910A>C	NP_001341536.1:p.Ile304Leu
NM_001354608.2:c.805A>C	NP_001341537.1:p.Ile269Leu
NM_198158.3:c.640A>C	NP_937801.1:p.Ile214Leu
NM_198159.3:c.961A>C	NP_937802.1:p.Ile321Leu
NM_198177.3:c.913A>C	NP_937820.1:p.Ile305Leu
NM_198178.3:c.472A>C	NP_937821.2:p.Ile158Leu
NM_000248.4:c.658A>C MANE Plus Clinical	NP_000239.1:p.Ile220Leu
NM_006722.3:c.958A>C	NP_006713.1:p.Ile320Leu