Canonical Allele Identifier: CA353559390

Gene: MITF

Linked Data

• MyVariant Identifiers: chr3:g.70014040C>A (hg19) ; chr3:g.69964889C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.69964889C>A , CM000665.2:g.69964889C>A	GRCh38
NC_000003.11:g.70014040C>A , CM000665.1:g.70014040C>A	GRCh37
NC_000003.10:g.70096730C>A	NCBI36
NG_011631.1:g.230408C>A , LRG_776:g.230408C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000314589.11:c.1156C>A	ENSP00000324443.5:p.Pro386Thr
ENST00000687384.1:c.1153C>A	ENSP00000510225.1:p.Pro385Thr
ENST00000689390.1:n.1378C>A
ENST00000693031.1:c.1129C>A	ENSP00000509845.1:p.Pro377Thr
ENST00000693549.1:c.1114-25C>A	ENSP00000509358.1:n.1114-25C>A
ENST00000314589.10:c.1156C>A	ENSP00000324443.5:p.Pro386Thr
ENST00000352241.9:c.1222C>A MANE Select	ENSP00000295600.8:p.Pro408Thr
ENST00000394351.9:c.901C>A MANE Plus Clinical	ENSP00000377880.3:p.Pro301Thr
ENST00000448226.9:c.1201C>A	ENSP00000391803.3:p.Pro401Thr
ENST00000642352.1:c.1204C>A	ENSP00000494105.1:p.Pro402Thr
ENST00000314557.10:c.883C>A	ENSP00000324246.6:p.Pro295Thr
ENST00000314589.9:c.1156C>A	ENSP00000324443.5:p.Pro386Thr
ENST00000328528.10:c.1201C>A	ENSP00000327867.6:p.Pro401Thr
ENST00000352241.8:c.1204C>A	ENSP00000295600.7:p.Pro402Thr
ENST00000394351.7:c.901C>A	ENSP00000377880.3:p.Pro301Thr
ENST00000448226.6:c.1222C>A	ENSP00000391803.2:p.Pro408Thr
ENST00000472437.5:c.1048C>A	ENSP00000418845.1:p.Pro350Thr
ENST00000478490.5:c.*548C>A	ENSP00000433487.1:n.*548C>A
ENST00000531774.1:c.715C>A	ENSP00000435909.1:p.Pro239Thr
NM_000248.3:c.901C>A , LRG_776t1:c.901C>A	NP_000239.1:p.Pro301Thr
NM_001184967.1:c.1048C>A	NP_001171896.1:p.Pro350Thr
NM_006722.2:c.1201C>A	NP_006713.1:p.Pro401Thr
NM_198158.2:c.883C>A	NP_937801.1:p.Pro295Thr
NM_198159.2:c.1204C>A	NP_937802.1:p.Pro402Thr
NM_198177.2:c.1156C>A	NP_937820.1:p.Pro386Thr
NM_198178.2:c.715C>A	NP_937821.2:p.Pro239Thr
XM_005264754.1:c.1222C>A	XP_005264811.1:p.Pro408Thr
XM_005264755.2:c.1174C>A	XP_005264812.1:p.Pro392Thr
XM_006713164.2:c.1066C>A	XP_006713227.1:p.Pro356Thr
XM_011533722.1:c.1219C>A	XP_011532024.1:p.Pro407Thr
XM_011533723.1:c.1171C>A	XP_011532025.1:p.Pro391Thr
XM_011533724.1:c.1066C>A	XP_011532026.1:p.Pro356Thr
XM_011533725.1:c.1054C>A	XP_011532027.1:p.Pro352Thr
XM_011533726.1:c.1036C>A	XP_011532028.1:p.Pro346Thr
NM_001354604.1:c.1222C>A	NP_001341533.1:p.Pro408Thr
NM_001354605.1:c.1219C>A	NP_001341534.1:p.Pro407Thr
NM_001354606.1:c.1201C>A	NP_001341535.1:p.Pro401Thr
NM_001354607.1:c.1153C>A	NP_001341536.1:p.Pro385Thr
NM_001354608.1:c.1048C>A	NP_001341537.1:p.Pro350Thr
NM_001184967.2:c.1048C>A	NP_001171896.1:p.Pro350Thr
NM_001354604.2:c.1222C>A MANE Select	NP_001341533.1:p.Pro408Thr
NM_001354605.2:c.1219C>A	NP_001341534.1:p.Pro407Thr
NM_001354606.2:c.1201C>A	NP_001341535.1:p.Pro401Thr
NM_001354607.2:c.1153C>A	NP_001341536.1:p.Pro385Thr
NM_001354608.2:c.1048C>A	NP_001341537.1:p.Pro350Thr
NM_198158.3:c.883C>A	NP_937801.1:p.Pro295Thr
NM_198159.3:c.1204C>A	NP_937802.1:p.Pro402Thr
NM_198177.3:c.1156C>A	NP_937820.1:p.Pro386Thr
NM_198178.3:c.715C>A	NP_937821.2:p.Pro239Thr
NM_000248.4:c.901C>A MANE Plus Clinical	NP_000239.1:p.Pro301Thr
NM_006722.3:c.1201C>A	NP_006713.1:p.Pro401Thr