Canonical Allele Identifier: CA1244024
Gene: MYOC HGNC NCBI
MYOCOS HGNC NCBI

Linked Data

dbSNP Id: rs747543321
ExAC: 1:171605161 GTACT / G
MyVariant Identifiers: chr1:g.171605162_171605165del (hg19) chr1:g.171636022_171636025del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.171636024_171636027del , CM000663.2:g.171636024_171636027del GRCh38
NC_000001.10:g.171605164_171605167del , CM000663.1:g.171605164_171605167del GRCh37
NC_000001.9:g.169871787_169871790del NCBI36
NG_008859.1:g.21609_21612del

Transcript Alleles

HGVS Amino-acid Change
ENST00000037502.11:c.1415_1418del (MYOC) MANE Select ENSP00000037502.5:p.Lys472ThrfsTer4
ENST00000637303.1:c.235-2606_235-2603del (MYOCOS) ENSP00000490048.1:n.235-2606_235-2603del
ENST00000638471.1:c.*753_*756del (MYOC) ENSP00000491206.1:n.*753_*756del
ENST00000037502.10:c.1415_1418del (MYOC) ENSP00000037502.5:p.Lys472ThrfsTer4
ENST00000614688.1:c.*379_*382del (MYOC) ENSP00000478680.1:n.*379_*382del
NM_000261.1:c.1415_1418del (MYOC) NP_000252.1:p.Lys472ThrfsTer4
NM_000261.2:c.1415_1418del (MYOC) MANE Select NP_000252.1:p.Lys472ThrfsTer4
Search 100 bp 5'
Search 100 bp 3'