Canonical Allele Identifier: CA645524327

Gene: MYOC MYOCOS

Linked Data

• COSMIC: COSM366983

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.171635996_171635997delinsTA , CM000663.2:g.171635996_171635997delinsTA	GRCh38
NC_000001.10:g.171605136_171605137delinsTA , CM000663.1:g.171605136_171605137delinsTA	GRCh37
NC_000001.9:g.169871759_169871760delinsTA	NCBI36
NG_008859.1:g.21637_21638delinsTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000037502.11:c.1443_1444delinsTA (MYOC) MANE Select	ENSP00000037502.5:p.Leu482Met
ENST00000637303.1:c.235-2634_235-2633delinsTA (MYOCOS)	ENSP00000490048.1:n.235-2634_235-2633delinsTA
ENST00000638471.1:c.*781_*782delinsTA (MYOC)	ENSP00000491206.1:n.*781_*782delinsTA
ENST00000037502.10:c.1443_1444delinsTA (MYOC)	ENSP00000037502.5:p.Leu482Met
ENST00000614688.1:c.*407_*408delinsTA (MYOC)	ENSP00000478680.1:n.*407_*408delinsTA
NM_000261.1:c.1443_1444delinsTA (MYOC)	NP_000252.1:p.Leu482Met
NM_000261.2:c.1443_1444delinsTA (MYOC) MANE Select	NP_000252.1:p.Leu482Met