Canonical Allele Identifier: CA353561671

Gene: MITF

Linked Data

• ClinVar Variation Id: 547531
• ClinVar RCV Id: RCV000659862 ; RCV002466557 ; RCV003767914
• dbSNP Id: rs1553704097
• MyVariant Identifiers: chr3:g.70001035T>C (hg19) ; chr3:g.69951884T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.69951884T>C , CM000665.2:g.69951884T>C	GRCh38
NC_000003.11:g.70001035T>C , CM000665.1:g.70001035T>C	GRCh37
NC_000003.10:g.70083725T>C	NCBI36
NG_011631.1:g.217403T>C , LRG_776:g.217403T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000314589.11:c.887T>C	ENSP00000324443.5:p.Leu296Pro
ENST00000687384.1:c.884T>C	ENSP00000510225.1:p.Leu295Pro
ENST00000689390.1:n.1109T>C
ENST00000693031.1:c.860T>C	ENSP00000509845.1:p.Leu287Pro
ENST00000693549.1:c.887T>C	ENSP00000509358.1:p.Leu296Pro
ENST00000314589.10:c.887T>C	ENSP00000324443.5:p.Leu296Pro
ENST00000352241.9:c.953T>C MANE Select	ENSP00000295600.8:p.Leu318Pro
ENST00000394351.9:c.632T>C MANE Plus Clinical	ENSP00000377880.3:p.Leu211Pro
ENST00000448226.9:c.932T>C	ENSP00000391803.3:p.Leu311Pro
ENST00000642352.1:c.935T>C	ENSP00000494105.1:p.Leu312Pro
ENST00000314557.10:c.614T>C	ENSP00000324246.6:p.Leu205Pro
ENST00000314589.9:c.887T>C	ENSP00000324443.5:p.Leu296Pro
ENST00000328528.10:c.932T>C	ENSP00000327867.6:p.Leu311Pro
ENST00000352241.8:c.935T>C	ENSP00000295600.7:p.Leu312Pro
ENST00000394351.7:c.632T>C	ENSP00000377880.3:p.Leu211Pro
ENST00000448226.6:c.953T>C	ENSP00000391803.2:p.Leu318Pro
ENST00000451708.5:c.905T>C	ENSP00000398639.1:p.Leu302Pro
ENST00000472437.5:c.779T>C	ENSP00000418845.1:p.Leu260Pro
ENST00000478490.5:c.*279T>C	ENSP00000433487.1:n.*279T>C
ENST00000531774.1:c.446T>C	ENSP00000435909.1:p.Leu149Pro
NM_000248.3:c.632T>C , LRG_776t1:c.632T>C	NP_000239.1:p.Leu211Pro
NM_001184967.1:c.779T>C	NP_001171896.1:p.Leu260Pro
NM_006722.2:c.932T>C	NP_006713.1:p.Leu311Pro
NM_198158.2:c.614T>C	NP_937801.1:p.Leu205Pro
NM_198159.2:c.935T>C	NP_937802.1:p.Leu312Pro
NM_198177.2:c.887T>C	NP_937820.1:p.Leu296Pro
NM_198178.2:c.446T>C	NP_937821.2:p.Leu149Pro
XM_005264754.1:c.953T>C	XP_005264811.1:p.Leu318Pro
XM_005264755.2:c.905T>C	XP_005264812.1:p.Leu302Pro
XM_006713164.2:c.797T>C	XP_006713227.1:p.Leu266Pro
XM_011533722.1:c.950T>C	XP_011532024.1:p.Leu317Pro
XM_011533723.1:c.902T>C	XP_011532025.1:p.Leu301Pro
XM_011533724.1:c.797T>C	XP_011532026.1:p.Leu266Pro
XM_011533725.1:c.785T>C	XP_011532027.1:p.Leu262Pro
XM_011533726.1:c.767T>C	XP_011532028.1:p.Leu256Pro
NM_001354604.1:c.953T>C	NP_001341533.1:p.Leu318Pro
NM_001354605.1:c.950T>C	NP_001341534.1:p.Leu317Pro
NM_001354606.1:c.932T>C	NP_001341535.1:p.Leu311Pro
NM_001354607.1:c.884T>C	NP_001341536.1:p.Leu295Pro
NM_001354608.1:c.779T>C	NP_001341537.1:p.Leu260Pro
NM_001184967.2:c.779T>C	NP_001171896.1:p.Leu260Pro
NM_001354604.2:c.953T>C MANE Select	NP_001341533.1:p.Leu318Pro
NM_001354605.2:c.950T>C	NP_001341534.1:p.Leu317Pro
NM_001354606.2:c.932T>C	NP_001341535.1:p.Leu311Pro
NM_001354607.2:c.884T>C	NP_001341536.1:p.Leu295Pro
NM_001354608.2:c.779T>C	NP_001341537.1:p.Leu260Pro
NM_198158.3:c.614T>C	NP_937801.1:p.Leu205Pro
NM_198159.3:c.935T>C	NP_937802.1:p.Leu312Pro
NM_198177.3:c.887T>C	NP_937820.1:p.Leu296Pro
NM_198178.3:c.446T>C	NP_937821.2:p.Leu149Pro
NM_000248.4:c.632T>C MANE Plus Clinical	NP_000239.1:p.Leu211Pro
NM_006722.3:c.932T>C	NP_006713.1:p.Leu311Pro