Canonical Allele Identifier: CA353561679

Gene: MITF

Linked Data

• ClinVar Variation Id: 1526191
• ClinVar RCV Id: RCV002052211
• dbSNP Id: rs2107519634
• MyVariant Identifiers: chr3:g.70001038G>T (hg19) ; chr3:g.69951887G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.69951887G>T , CM000665.2:g.69951887G>T	GRCh38
NC_000003.11:g.70001038G>T , CM000665.1:g.70001038G>T	GRCh37
NC_000003.10:g.70083728G>T	NCBI36
NG_011631.1:g.217406G>T , LRG_776:g.217406G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000314589.11:c.889+1G>T	ENSP00000324443.5:n.889+1G>T
ENST00000687384.1:c.886+1G>T	ENSP00000510225.1:n.886+1G>T
ENST00000689390.1:n.1111+1G>T
ENST00000693031.1:c.862+1G>T	ENSP00000509845.1:n.862+1G>T
ENST00000693549.1:c.889+1G>T	ENSP00000509358.1:n.889+1G>T
ENST00000314589.10:c.889+1G>T	ENSP00000324443.5:n.889+1G>T
ENST00000352241.9:c.955+1G>T MANE Select	ENSP00000295600.8:n.955+1G>T
ENST00000394351.9:c.634+1G>T MANE Plus Clinical	ENSP00000377880.3:n.634+1G>T
ENST00000448226.9:c.934+1G>T	ENSP00000391803.3:n.934+1G>T
ENST00000642352.1:c.937+1G>T	ENSP00000494105.1:n.937+1G>T
ENST00000314557.10:c.616+1G>T	ENSP00000324246.6:n.616+1G>T
ENST00000314589.9:c.889+1G>T	ENSP00000324443.5:n.889+1G>T
ENST00000328528.10:c.934+1G>T	ENSP00000327867.6:n.934+1G>T
ENST00000352241.8:c.937+1G>T	ENSP00000295600.7:n.937+1G>T
ENST00000394351.7:c.634+1G>T	ENSP00000377880.3:n.634+1G>T
ENST00000448226.6:c.955+1G>T	ENSP00000391803.2:n.955+1G>T
ENST00000451708.5:c.907+1G>T	ENSP00000398639.1:n.907+1G>T
ENST00000472437.5:c.781+1G>T	ENSP00000418845.1:n.781+1G>T
ENST00000478490.5:c.*281+1G>T	ENSP00000433487.1:n.*281+1G>T
ENST00000531774.1:c.448+1G>T	ENSP00000435909.1:n.448+1G>T
NM_000248.3:c.634+1G>T , LRG_776t1:c.634+1G>T	NP_000239.1:n.634+1G>T
NM_001184967.1:c.781+1G>T	NP_001171896.1:n.781+1G>T
NM_006722.2:c.934+1G>T	NP_006713.1:n.934+1G>T
NM_198158.2:c.616+1G>T	NP_937801.1:n.616+1G>T
NM_198159.2:c.937+1G>T	NP_937802.1:n.937+1G>T
NM_198177.2:c.889+1G>T	NP_937820.1:n.889+1G>T
NM_198178.2:c.448+1G>T	NP_937821.2:n.448+1G>T
XM_005264754.1:c.955+1G>T	XP_005264811.1:n.955+1G>T
XM_005264755.2:c.907+1G>T	XP_005264812.1:n.907+1G>T
XM_006713164.2:c.799+1G>T	XP_006713227.1:n.799+1G>T
XM_011533722.1:c.952+1G>T	XP_011532024.1:n.952+1G>T
XM_011533723.1:c.904+1G>T	XP_011532025.1:n.904+1G>T
XM_011533724.1:c.799+1G>T	XP_011532026.1:n.799+1G>T
XM_011533725.1:c.787+1G>T	XP_011532027.1:n.787+1G>T
XM_011533726.1:c.769+1G>T	XP_011532028.1:n.769+1G>T
NM_001354604.1:c.955+1G>T	NP_001341533.1:n.955+1G>T
NM_001354605.1:c.952+1G>T	NP_001341534.1:n.952+1G>T
NM_001354606.1:c.934+1G>T	NP_001341535.1:n.934+1G>T
NM_001354607.1:c.886+1G>T	NP_001341536.1:n.886+1G>T
NM_001354608.1:c.781+1G>T	NP_001341537.1:n.781+1G>T
NM_001184967.2:c.781+1G>T	NP_001171896.1:n.781+1G>T
NM_001354604.2:c.955+1G>T MANE Select	NP_001341533.1:n.955+1G>T
NM_001354605.2:c.952+1G>T	NP_001341534.1:n.952+1G>T
NM_001354606.2:c.934+1G>T	NP_001341535.1:n.934+1G>T
NM_001354607.2:c.886+1G>T	NP_001341536.1:n.886+1G>T
NM_001354608.2:c.781+1G>T	NP_001341537.1:n.781+1G>T
NM_198158.3:c.616+1G>T	NP_937801.1:n.616+1G>T
NM_198159.3:c.937+1G>T	NP_937802.1:n.937+1G>T
NM_198177.3:c.889+1G>T	NP_937820.1:n.889+1G>T
NM_198178.3:c.448+1G>T	NP_937821.2:n.448+1G>T
NM_000248.4:c.634+1G>T MANE Plus Clinical	NP_000239.1:n.634+1G>T
NM_006722.3:c.934+1G>T	NP_006713.1:n.934+1G>T