Canonical Allele Identifier: CA119175

Gene: MYOC MYOCOS

Linked Data

• ClinVar Variation Id: 7951
• ClinVar RCV Id: RCV000008414 ; RCV002247271
• dbSNP Id: rs74315332
• gnomAD v4: 1-171636000-G-T
• MyVariant Identifiers: chr1:g.171605140G>T (hg19) ; chr1:g.171636000G>T (hg38)
• PubMed: PMID:9328473 ; PMID:9556305
• ERepo: CA119175/MONDO:0020367/019

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.171636000G>T , CM000663.2:g.171636000G>T	GRCh38
NC_000001.10:g.171605140G>T , CM000663.1:g.171605140G>T	GRCh37
NC_000001.9:g.169871763G>T	NCBI36
NG_008859.1:g.21634C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000037502.11:c.1440C>A (MYOC) MANE Select	ENSP00000037502.5:p.Asn480Lys
ENST00000637303.1:c.235-2630G>T (MYOCOS)	ENSP00000490048.1:n.235-2630G>T
ENST00000638471.1:c.*778C>A (MYOC)	ENSP00000491206.1:n.*778C>A
ENST00000037502.10:c.1440C>A (MYOC)	ENSP00000037502.5:p.Asn480Lys
ENST00000614688.1:c.*404C>A (MYOC)	ENSP00000478680.1:n.*404C>A
NM_000261.1:c.1440C>A (MYOC)	NP_000252.1:p.Asn480Lys
NM_000261.2:c.1440C>A (MYOC) MANE Select	NP_000252.1:p.Asn480Lys