Canonical Allele Identifier: CA434306280

Gene: MITF

Linked Data

• MyVariant Identifiers: chr3:g.70001000G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.69951849G>C , CM000665.2:g.69951849G>C	GRCh38
NC_000003.11:g.70001000G>C , CM000665.1:g.70001000G>C	GRCh37
NC_000003.10:g.70083690G>C	NCBI36
NG_011631.1:g.217368G>C , LRG_776:g.217368G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000314589.11:c.852G>C	ENSP00000324443.5:p.Leu284=
ENST00000687384.1:c.849G>C	ENSP00000510225.1:p.Leu283=
ENST00000689390.1:n.1074G>C
ENST00000693031.1:c.825G>C	ENSP00000509845.1:p.Leu275=
ENST00000693549.1:c.852G>C	ENSP00000509358.1:p.Leu284=
ENST00000314589.10:c.852G>C	ENSP00000324443.5:p.Leu284=
ENST00000352241.9:c.918G>C MANE Select	ENSP00000295600.8:p.Leu306=
ENST00000394351.9:c.597G>C MANE Plus Clinical	ENSP00000377880.3:p.Leu199=
ENST00000448226.9:c.897G>C	ENSP00000391803.3:p.Leu299=
ENST00000642352.1:c.900G>C	ENSP00000494105.1:p.Leu300=
ENST00000314557.10:c.579G>C	ENSP00000324246.6:p.Leu193=
ENST00000314589.9:c.852G>C	ENSP00000324443.5:p.Leu284=
ENST00000328528.10:c.897G>C	ENSP00000327867.6:p.Leu299=
ENST00000352241.8:c.900G>C	ENSP00000295600.7:p.Leu300=
ENST00000394351.7:c.597G>C	ENSP00000377880.3:p.Leu199=
ENST00000448226.6:c.918G>C	ENSP00000391803.2:p.Leu306=
ENST00000451708.5:c.870G>C	ENSP00000398639.1:p.Leu290=
ENST00000472437.5:c.744G>C	ENSP00000418845.1:p.Leu248=
ENST00000478490.5:c.*244G>C	ENSP00000433487.1:n.*244G>C
ENST00000531774.1:c.411G>C	ENSP00000435909.1:p.Leu137=
NM_000248.3:c.597G>C , LRG_776t1:c.597G>C	NP_000239.1:p.Leu199=
NM_001184967.1:c.744G>C	NP_001171896.1:p.Leu248=
NM_006722.2:c.897G>C	NP_006713.1:p.Leu299=
NM_198158.2:c.579G>C	NP_937801.1:p.Leu193=
NM_198159.2:c.900G>C	NP_937802.1:p.Leu300=
NM_198177.2:c.852G>C	NP_937820.1:p.Leu284=
NM_198178.2:c.411G>C	NP_937821.2:p.Leu137=
XM_005264754.1:c.918G>C	XP_005264811.1:p.Leu306=
XM_005264755.2:c.870G>C	XP_005264812.1:p.Leu290=
XM_006713164.2:c.762G>C	XP_006713227.1:p.Leu254=
XM_011533722.1:c.915G>C	XP_011532024.1:p.Leu305=
XM_011533723.1:c.867G>C	XP_011532025.1:p.Leu289=
XM_011533724.1:c.762G>C	XP_011532026.1:p.Leu254=
XM_011533725.1:c.750G>C	XP_011532027.1:p.Leu250=
XM_011533726.1:c.732G>C	XP_011532028.1:p.Leu244=
NM_001354604.1:c.918G>C	NP_001341533.1:p.Leu306=
NM_001354605.1:c.915G>C	NP_001341534.1:p.Leu305=
NM_001354606.1:c.897G>C	NP_001341535.1:p.Leu299=
NM_001354607.1:c.849G>C	NP_001341536.1:p.Leu283=
NM_001354608.1:c.744G>C	NP_001341537.1:p.Leu248=
NM_001184967.2:c.744G>C	NP_001171896.1:p.Leu248=
NM_001354604.2:c.918G>C MANE Select	NP_001341533.1:p.Leu306=
NM_001354605.2:c.915G>C	NP_001341534.1:p.Leu305=
NM_001354606.2:c.897G>C	NP_001341535.1:p.Leu299=
NM_001354607.2:c.849G>C	NP_001341536.1:p.Leu283=
NM_001354608.2:c.744G>C	NP_001341537.1:p.Leu248=
NM_198158.3:c.579G>C	NP_937801.1:p.Leu193=
NM_198159.3:c.900G>C	NP_937802.1:p.Leu300=
NM_198177.3:c.852G>C	NP_937820.1:p.Leu284=
NM_198178.3:c.411G>C	NP_937821.2:p.Leu137=
NM_000248.4:c.597G>C MANE Plus Clinical	NP_000239.1:p.Leu199=
NM_006722.3:c.897G>C	NP_006713.1:p.Leu299=