Canonical Allele Identifier: CA353561791

Gene: MITF

Linked Data

• ClinVar Variation Id: 2949784
• ClinVar RCV Id: RCV003804950
• MyVariant Identifiers: chr3:g.70005651T>C (hg19) ; chr3:g.69956500T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.69956500T>C , CM000665.2:g.69956500T>C	GRCh38
NC_000003.11:g.70005651T>C , CM000665.1:g.70005651T>C	GRCh37
NC_000003.10:g.70088341T>C	NCBI36
NG_011631.1:g.222019T>C , LRG_776:g.222019T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000314589.11:c.935T>C	ENSP00000324443.5:p.Leu312Pro
ENST00000687384.1:c.932T>C	ENSP00000510225.1:p.Leu311Pro
ENST00000689390.1:n.1157T>C
ENST00000693031.1:c.908T>C	ENSP00000509845.1:p.Leu303Pro
ENST00000693549.1:c.935T>C	ENSP00000509358.1:p.Leu312Pro
ENST00000314589.10:c.935T>C	ENSP00000324443.5:p.Leu312Pro
ENST00000352241.9:c.1001T>C MANE Select	ENSP00000295600.8:p.Leu334Pro
ENST00000394351.9:c.680T>C MANE Plus Clinical	ENSP00000377880.3:p.Leu227Pro
ENST00000448226.9:c.980T>C	ENSP00000391803.3:p.Leu327Pro
ENST00000642352.1:c.983T>C	ENSP00000494105.1:p.Leu328Pro
ENST00000314557.10:c.662T>C	ENSP00000324246.6:p.Leu221Pro
ENST00000314589.9:c.935T>C	ENSP00000324443.5:p.Leu312Pro
ENST00000328528.10:c.980T>C	ENSP00000327867.6:p.Leu327Pro
ENST00000352241.8:c.983T>C	ENSP00000295600.7:p.Leu328Pro
ENST00000394351.7:c.680T>C	ENSP00000377880.3:p.Leu227Pro
ENST00000448226.6:c.1001T>C	ENSP00000391803.2:p.Leu334Pro
ENST00000451708.5:c.953T>C	ENSP00000398639.1:p.Leu318Pro
ENST00000472437.5:c.827T>C	ENSP00000418845.1:p.Leu276Pro
ENST00000478490.5:c.*327T>C	ENSP00000433487.1:n.*327T>C
ENST00000531774.1:c.494T>C	ENSP00000435909.1:p.Leu165Pro
NM_000248.3:c.680T>C , LRG_776t1:c.680T>C	NP_000239.1:p.Leu227Pro
NM_001184967.1:c.827T>C	NP_001171896.1:p.Leu276Pro
NM_006722.2:c.980T>C	NP_006713.1:p.Leu327Pro
NM_198158.2:c.662T>C	NP_937801.1:p.Leu221Pro
NM_198159.2:c.983T>C	NP_937802.1:p.Leu328Pro
NM_198177.2:c.935T>C	NP_937820.1:p.Leu312Pro
NM_198178.2:c.494T>C	NP_937821.2:p.Leu165Pro
XM_005264754.1:c.1001T>C	XP_005264811.1:p.Leu334Pro
XM_005264755.2:c.953T>C	XP_005264812.1:p.Leu318Pro
XM_006713164.2:c.845T>C	XP_006713227.1:p.Leu282Pro
XM_011533722.1:c.998T>C	XP_011532024.1:p.Leu333Pro
XM_011533723.1:c.950T>C	XP_011532025.1:p.Leu317Pro
XM_011533724.1:c.845T>C	XP_011532026.1:p.Leu282Pro
XM_011533725.1:c.833T>C	XP_011532027.1:p.Leu278Pro
XM_011533726.1:c.815T>C	XP_011532028.1:p.Leu272Pro
NM_001354604.1:c.1001T>C	NP_001341533.1:p.Leu334Pro
NM_001354605.1:c.998T>C	NP_001341534.1:p.Leu333Pro
NM_001354606.1:c.980T>C	NP_001341535.1:p.Leu327Pro
NM_001354607.1:c.932T>C	NP_001341536.1:p.Leu311Pro
NM_001354608.1:c.827T>C	NP_001341537.1:p.Leu276Pro
NM_001184967.2:c.827T>C	NP_001171896.1:p.Leu276Pro
NM_001354604.2:c.1001T>C MANE Select	NP_001341533.1:p.Leu334Pro
NM_001354605.2:c.998T>C	NP_001341534.1:p.Leu333Pro
NM_001354606.2:c.980T>C	NP_001341535.1:p.Leu327Pro
NM_001354607.2:c.932T>C	NP_001341536.1:p.Leu311Pro
NM_001354608.2:c.827T>C	NP_001341537.1:p.Leu276Pro
NM_198158.3:c.662T>C	NP_937801.1:p.Leu221Pro
NM_198159.3:c.983T>C	NP_937802.1:p.Leu328Pro
NM_198177.3:c.935T>C	NP_937820.1:p.Leu312Pro
NM_198178.3:c.494T>C	NP_937821.2:p.Leu165Pro
NM_000248.4:c.680T>C MANE Plus Clinical	NP_000239.1:p.Leu227Pro
NM_006722.3:c.980T>C	NP_006713.1:p.Leu327Pro