Canonical Allele Identifier: CA353561096

Gene: MITF

Linked Data - Variant Effect Evidence

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.69941273C>A , CM000665.2:g.69941273C>A	GRCh38
NC_000003.11:g.69990424C>A , CM000665.1:g.69990424C>A	GRCh37
NC_000003.10:g.70073114C>A	NCBI36
NG_011631.1:g.206792C>A , LRG_776:g.206792C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000314589.11:c.656C>A	ENSP00000324443.5:p.Ser219Ter
ENST00000687384.1:c.653C>A	ENSP00000510225.1:p.Ser218Ter
ENST00000689390.1:n.878C>A
ENST00000693031.1:c.629C>A	ENSP00000509845.1:p.Ser210Ter
ENST00000693549.1:c.656C>A	ENSP00000509358.1:p.Ser219Ter
ENST00000314589.10:c.656C>A	ENSP00000324443.5:p.Ser219Ter
ENST00000352241.9:c.704C>A MANE Select	ENSP00000295600.8:p.Ser235Ter
ENST00000394351.9:c.383C>A MANE Plus Clinical	ENSP00000377880.3:p.Ser128Ter
ENST00000448226.9:c.701C>A	ENSP00000391803.3:p.Ser234Ter
ENST00000642352.1:c.704C>A	ENSP00000494105.1:p.Ser235Ter
ENST00000314557.10:c.383C>A	ENSP00000324246.6:p.Ser128Ter
ENST00000314589.9:c.656C>A	ENSP00000324443.5:p.Ser219Ter
ENST00000328528.10:c.701C>A	ENSP00000327867.6:p.Ser234Ter
ENST00000352241.8:c.704C>A	ENSP00000295600.7:p.Ser235Ter
ENST00000394351.7:c.383C>A	ENSP00000377880.3:p.Ser128Ter
ENST00000433517.5:c.380C>A	ENSP00000411389.1:p.Ser127Ter
ENST00000448226.6:c.704C>A	ENSP00000391803.2:p.Ser235Ter
ENST00000451708.5:c.656C>A	ENSP00000398639.1:p.Ser219Ter
ENST00000461014.1:n.694C>A
ENST00000472437.5:c.548C>A	ENSP00000418845.1:p.Ser183Ter
ENST00000478490.5:c.*30C>A	ENSP00000433487.1:n.*30C>A
ENST00000531774.1:c.215C>A	ENSP00000435909.1:p.Ser72Ter
NM_000248.3:c.383C>A , LRG_776t1:c.383C>A	NP_000239.1:p.Ser128Ter
NM_001184967.1:c.548C>A	NP_001171896.1:p.Ser183Ter
NM_006722.2:c.701C>A	NP_006713.1:p.Ser234Ter
NM_198158.2:c.383C>A	NP_937801.1:p.Ser128Ter
NM_198159.2:c.704C>A	NP_937802.1:p.Ser235Ter
NM_198177.2:c.656C>A	NP_937820.1:p.Ser219Ter
NM_198178.2:c.215C>A	NP_937821.2:p.Ser72Ter
XM_005264754.1:c.704C>A	XP_005264811.1:p.Ser235Ter
XM_005264755.2:c.656C>A	XP_005264812.1:p.Ser219Ter
XM_006713164.2:c.548C>A	XP_006713227.1:p.Ser183Ter
XM_011533722.1:c.701C>A	XP_011532024.1:p.Ser234Ter
XM_011533723.1:c.653C>A	XP_011532025.1:p.Ser218Ter
XM_011533724.1:c.548C>A	XP_011532026.1:p.Ser183Ter
XM_011533725.1:c.536C>A	XP_011532027.1:p.Ser179Ter
XM_011533726.1:c.536C>A	XP_011532028.1:p.Ser179Ter
NM_001354604.1:c.704C>A	NP_001341533.1:p.Ser235Ter
NM_001354605.1:c.701C>A	NP_001341534.1:p.Ser234Ter
NM_001354606.1:c.701C>A	NP_001341535.1:p.Ser234Ter
NM_001354607.1:c.653C>A	NP_001341536.1:p.Ser218Ter
NM_001354608.1:c.548C>A	NP_001341537.1:p.Ser183Ter
NM_001184967.2:c.548C>A	NP_001171896.1:p.Ser183Ter
NM_001354604.2:c.704C>A MANE Select	NP_001341533.1:p.Ser235Ter
NM_001354605.2:c.701C>A	NP_001341534.1:p.Ser234Ter
NM_001354606.2:c.701C>A	NP_001341535.1:p.Ser234Ter
NM_001354607.2:c.653C>A	NP_001341536.1:p.Ser218Ter
NM_001354608.2:c.548C>A	NP_001341537.1:p.Ser183Ter
NM_198158.3:c.383C>A	NP_937801.1:p.Ser128Ter
NM_198159.3:c.704C>A	NP_937802.1:p.Ser235Ter
NM_198177.3:c.656C>A	NP_937820.1:p.Ser219Ter
NM_198178.3:c.215C>A	NP_937821.2:p.Ser72Ter
NM_000248.4:c.383C>A MANE Plus Clinical	NP_000239.1:p.Ser128Ter
NM_006722.3:c.701C>A	NP_006713.1:p.Ser234Ter