Canonical Allele Identifier: CA353561729

Gene: MITF

Linked Data

• MyVariant Identifiers: chr3:g.70005625T>G (hg19) ; chr3:g.69956474T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.69956474T>G , CM000665.2:g.69956474T>G	GRCh38
NC_000003.11:g.70005625T>G , CM000665.1:g.70005625T>G	GRCh37
NC_000003.10:g.70088315T>G	NCBI36
NG_011631.1:g.221993T>G , LRG_776:g.221993T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000314589.11:c.909T>G	ENSP00000324443.5:p.Phe303Leu
ENST00000687384.1:c.906T>G	ENSP00000510225.1:p.Phe302Leu
ENST00000689390.1:n.1131T>G
ENST00000693031.1:c.882T>G	ENSP00000509845.1:p.Phe294Leu
ENST00000693549.1:c.909T>G	ENSP00000509358.1:p.Phe303Leu
ENST00000314589.10:c.909T>G	ENSP00000324443.5:p.Phe303Leu
ENST00000352241.9:c.975T>G MANE Select	ENSP00000295600.8:p.Phe325Leu
ENST00000394351.9:c.654T>G MANE Plus Clinical	ENSP00000377880.3:p.Phe218Leu
ENST00000448226.9:c.954T>G	ENSP00000391803.3:p.Phe318Leu
ENST00000642352.1:c.957T>G	ENSP00000494105.1:p.Phe319Leu
ENST00000314557.10:c.636T>G	ENSP00000324246.6:p.Phe212Leu
ENST00000314589.9:c.909T>G	ENSP00000324443.5:p.Phe303Leu
ENST00000328528.10:c.954T>G	ENSP00000327867.6:p.Phe318Leu
ENST00000352241.8:c.957T>G	ENSP00000295600.7:p.Phe319Leu
ENST00000394351.7:c.654T>G	ENSP00000377880.3:p.Phe218Leu
ENST00000448226.6:c.975T>G	ENSP00000391803.2:p.Phe325Leu
ENST00000451708.5:c.927T>G	ENSP00000398639.1:p.Phe309Leu
ENST00000472437.5:c.801T>G	ENSP00000418845.1:p.Phe267Leu
ENST00000478490.5:c.*301T>G	ENSP00000433487.1:n.*301T>G
ENST00000531774.1:c.468T>G	ENSP00000435909.1:p.Phe156Leu
NM_000248.3:c.654T>G , LRG_776t1:c.654T>G	NP_000239.1:p.Phe218Leu
NM_001184967.1:c.801T>G	NP_001171896.1:p.Phe267Leu
NM_006722.2:c.954T>G	NP_006713.1:p.Phe318Leu
NM_198158.2:c.636T>G	NP_937801.1:p.Phe212Leu
NM_198159.2:c.957T>G	NP_937802.1:p.Phe319Leu
NM_198177.2:c.909T>G	NP_937820.1:p.Phe303Leu
NM_198178.2:c.468T>G	NP_937821.2:p.Phe156Leu
XM_005264754.1:c.975T>G	XP_005264811.1:p.Phe325Leu
XM_005264755.2:c.927T>G	XP_005264812.1:p.Phe309Leu
XM_006713164.2:c.819T>G	XP_006713227.1:p.Phe273Leu
XM_011533722.1:c.972T>G	XP_011532024.1:p.Phe324Leu
XM_011533723.1:c.924T>G	XP_011532025.1:p.Phe308Leu
XM_011533724.1:c.819T>G	XP_011532026.1:p.Phe273Leu
XM_011533725.1:c.807T>G	XP_011532027.1:p.Phe269Leu
XM_011533726.1:c.789T>G	XP_011532028.1:p.Phe263Leu
NM_001354604.1:c.975T>G	NP_001341533.1:p.Phe325Leu
NM_001354605.1:c.972T>G	NP_001341534.1:p.Phe324Leu
NM_001354606.1:c.954T>G	NP_001341535.1:p.Phe318Leu
NM_001354607.1:c.906T>G	NP_001341536.1:p.Phe302Leu
NM_001354608.1:c.801T>G	NP_001341537.1:p.Phe267Leu
NM_001184967.2:c.801T>G	NP_001171896.1:p.Phe267Leu
NM_001354604.2:c.975T>G MANE Select	NP_001341533.1:p.Phe325Leu
NM_001354605.2:c.972T>G	NP_001341534.1:p.Phe324Leu
NM_001354606.2:c.954T>G	NP_001341535.1:p.Phe318Leu
NM_001354607.2:c.906T>G	NP_001341536.1:p.Phe302Leu
NM_001354608.2:c.801T>G	NP_001341537.1:p.Phe267Leu
NM_198158.3:c.636T>G	NP_937801.1:p.Phe212Leu
NM_198159.3:c.957T>G	NP_937802.1:p.Phe319Leu
NM_198177.3:c.909T>G	NP_937820.1:p.Phe303Leu
NM_198178.3:c.468T>G	NP_937821.2:p.Phe156Leu
NM_000248.4:c.654T>G MANE Plus Clinical	NP_000239.1:p.Phe218Leu
NM_006722.3:c.954T>G	NP_006713.1:p.Phe318Leu