Canonical Allele Identifier: CA119171

Gene: MYOC MYOCOS

Linked Data

• ClinVar Variation Id: 7948
• ClinVar RCV Id: RCV000008411 ; RCV000255144 ; RCV001843350
• dbSNP Id: rs74315330
• COSMIC: COSM5795866
• MyVariant Identifiers: chr1:g.171605471G>A (hg19) ; chr1:g.171636331G>A (hg38)
• ERepo: CA119171/MONDO:0020367/019
• PubMed: PMID:9328473 ; PMID:9345106

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.171636331G>A , CM000663.2:g.171636331G>A	GRCh38
NC_000001.10:g.171605471G>A , CM000663.1:g.171605471G>A	GRCh37
NC_000001.9:g.169872094G>A	NCBI36
NG_008859.1:g.21303C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000037502.11:c.1109C>T (MYOC) MANE Select	ENSP00000037502.5:p.Pro370Leu
ENST00000637303.1:c.235-2299G>A (MYOCOS)	ENSP00000490048.1:n.235-2299G>A
ENST00000638471.1:c.*447C>T (MYOC)	ENSP00000491206.1:n.*447C>T
ENST00000037502.10:c.1109C>T (MYOC)	ENSP00000037502.5:p.Pro370Leu
ENST00000614688.1:c.*73C>T (MYOC)	ENSP00000478680.1:n.*73C>T
NM_000261.1:c.1109C>T (MYOC)	NP_000252.1:p.Pro370Leu
NM_000261.2:c.1109C>T (MYOC) MANE Select	NP_000252.1:p.Pro370Leu