Canonical Allele Identifier: CA527600367

Gene: MYOC MYOCOS

Linked Data

• dbSNP Id: rs1207915576
• gnomAD v2: 1-171605830-CCAAA-C
• gnomAD v3: 1-171636690-CCAAA-C
• gnomAD v4: 1-171636690-CCAAA-C
• MyVariant Identifiers: chr1:g.171605831_171605834del (hg19) ; chr1:g.171636691_171636694del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.171636692_171636695del , CM000663.2:g.171636692_171636695del	GRCh38
NC_000001.10:g.171605832_171605835del , CM000663.1:g.171605832_171605835del	GRCh37
NC_000001.9:g.169872455_169872458del	NCBI36
NG_008859.1:g.20940_20943del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000037502.11:c.746_749del (MYOC) MANE Select	ENSP00000037502.5:p.Val249GlyfsTer2
ENST00000637303.1:c.235-1938_235-1935del (MYOCOS)	ENSP00000490048.1:n.235-1938_235-1935del
ENST00000638471.1:c.*84_*87del (MYOC)	ENSP00000491206.1:n.*84_*87del
ENST00000037502.10:c.746_749del (MYOC)	ENSP00000037502.5:p.Val249GlyfsTer2
ENST00000614688.1:c.746_749del (MYOC)	ENSP00000478680.1:p.Val249GlyfsTer2
NM_000261.1:c.746_749del (MYOC)	NP_000252.1:p.Val249GlyfsTer2
NM_000261.2:c.746_749del (MYOC) MANE Select	NP_000252.1:p.Val249GlyfsTer2