Canonical Allele Identifier: CA353561613

Gene: MITF

Linked Data

• MyVariant Identifiers: chr3:g.70001012G>C (hg19) ; chr3:g.69951861G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.69951861G>C , CM000665.2:g.69951861G>C	GRCh38
NC_000003.11:g.70001012G>C , CM000665.1:g.70001012G>C	GRCh37
NC_000003.10:g.70083702G>C	NCBI36
NG_011631.1:g.217380G>C , LRG_776:g.217380G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000314589.11:c.864G>C	ENSP00000324443.5:p.Arg288Ser
ENST00000687384.1:c.861G>C	ENSP00000510225.1:p.Arg287Ser
ENST00000689390.1:n.1086G>C
ENST00000693031.1:c.837G>C	ENSP00000509845.1:p.Arg279Ser
ENST00000693549.1:c.864G>C	ENSP00000509358.1:p.Arg288Ser
ENST00000314589.10:c.864G>C	ENSP00000324443.5:p.Arg288Ser
ENST00000352241.9:c.930G>C MANE Select	ENSP00000295600.8:p.Arg310Ser
ENST00000394351.9:c.609G>C MANE Plus Clinical	ENSP00000377880.3:p.Arg203Ser
ENST00000448226.9:c.909G>C	ENSP00000391803.3:p.Arg303Ser
ENST00000642352.1:c.912G>C	ENSP00000494105.1:p.Arg304Ser
ENST00000314557.10:c.591G>C	ENSP00000324246.6:p.Arg197Ser
ENST00000314589.9:c.864G>C	ENSP00000324443.5:p.Arg288Ser
ENST00000328528.10:c.909G>C	ENSP00000327867.6:p.Arg303Ser
ENST00000352241.8:c.912G>C	ENSP00000295600.7:p.Arg304Ser
ENST00000394351.7:c.609G>C	ENSP00000377880.3:p.Arg203Ser
ENST00000448226.6:c.930G>C	ENSP00000391803.2:p.Arg310Ser
ENST00000451708.5:c.882G>C	ENSP00000398639.1:p.Arg294Ser
ENST00000472437.5:c.756G>C	ENSP00000418845.1:p.Arg252Ser
ENST00000478490.5:c.*256G>C	ENSP00000433487.1:n.*256G>C
ENST00000531774.1:c.423G>C	ENSP00000435909.1:p.Arg141Ser
NM_000248.3:c.609G>C , LRG_776t1:c.609G>C	NP_000239.1:p.Arg203Ser
NM_001184967.1:c.756G>C	NP_001171896.1:p.Arg252Ser
NM_006722.2:c.909G>C	NP_006713.1:p.Arg303Ser
NM_198158.2:c.591G>C	NP_937801.1:p.Arg197Ser
NM_198159.2:c.912G>C	NP_937802.1:p.Arg304Ser
NM_198177.2:c.864G>C	NP_937820.1:p.Arg288Ser
NM_198178.2:c.423G>C	NP_937821.2:p.Arg141Ser
XM_005264754.1:c.930G>C	XP_005264811.1:p.Arg310Ser
XM_005264755.2:c.882G>C	XP_005264812.1:p.Arg294Ser
XM_006713164.2:c.774G>C	XP_006713227.1:p.Arg258Ser
XM_011533722.1:c.927G>C	XP_011532024.1:p.Arg309Ser
XM_011533723.1:c.879G>C	XP_011532025.1:p.Arg293Ser
XM_011533724.1:c.774G>C	XP_011532026.1:p.Arg258Ser
XM_011533725.1:c.762G>C	XP_011532027.1:p.Arg254Ser
XM_011533726.1:c.744G>C	XP_011532028.1:p.Arg248Ser
NM_001354604.1:c.930G>C	NP_001341533.1:p.Arg310Ser
NM_001354605.1:c.927G>C	NP_001341534.1:p.Arg309Ser
NM_001354606.1:c.909G>C	NP_001341535.1:p.Arg303Ser
NM_001354607.1:c.861G>C	NP_001341536.1:p.Arg287Ser
NM_001354608.1:c.756G>C	NP_001341537.1:p.Arg252Ser
NM_001184967.2:c.756G>C	NP_001171896.1:p.Arg252Ser
NM_001354604.2:c.930G>C MANE Select	NP_001341533.1:p.Arg310Ser
NM_001354605.2:c.927G>C	NP_001341534.1:p.Arg309Ser
NM_001354606.2:c.909G>C	NP_001341535.1:p.Arg303Ser
NM_001354607.2:c.861G>C	NP_001341536.1:p.Arg287Ser
NM_001354608.2:c.756G>C	NP_001341537.1:p.Arg252Ser
NM_198158.3:c.591G>C	NP_937801.1:p.Arg197Ser
NM_198159.3:c.912G>C	NP_937802.1:p.Arg304Ser
NM_198177.3:c.864G>C	NP_937820.1:p.Arg288Ser
NM_198178.3:c.423G>C	NP_937821.2:p.Arg141Ser
NM_000248.4:c.609G>C MANE Plus Clinical	NP_000239.1:p.Arg203Ser
NM_006722.3:c.909G>C	NP_006713.1:p.Arg303Ser