Canonical Allele Identifier: CA343725164

Gene: MYOC MYOCOS

Linked Data

• dbSNP Id: rs1249595170
• gnomAD v2: 1-171605580-G-C
• gnomAD v4: 1-171636440-G-C
• MyVariant Identifiers: chr1:g.171605580G>C (hg19) ; chr1:g.171636440G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.171636440G>C , CM000663.2:g.171636440G>C	GRCh38
NC_000001.10:g.171605580G>C , CM000663.1:g.171605580G>C	GRCh37
NC_000001.9:g.169872203G>C	NCBI36
NG_008859.1:g.21194C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000037502.11:c.1000C>G (MYOC) MANE Select	ENSP00000037502.5:p.Leu334Val
ENST00000637303.1:c.235-2190G>C (MYOCOS)	ENSP00000490048.1:n.235-2190G>C
ENST00000638471.1:c.*338C>G (MYOC)	ENSP00000491206.1:n.*338C>G
ENST00000037502.10:c.1000C>G (MYOC)	ENSP00000037502.5:p.Leu334Val
ENST00000614688.1:c.1000C>G (MYOC)	ENSP00000478680.1:p.Leu334Val
NM_000261.1:c.1000C>G (MYOC)	NP_000252.1:p.Leu334Val
NM_000261.2:c.1000C>G (MYOC) MANE Select	NP_000252.1:p.Leu334Val