Canonical Allele Identifier: CA1244173

Gene: MYOC MYOCOS

Linked Data

• dbSNP Id: rs373600141
• ExAC: 1:171605881 A / G
• gnomAD v2: 1-171605881-A-G
• gnomAD v3: 1-171636741-A-G
• gnomAD v4: 1-171636741-A-G
• MyVariant Identifiers: chr1:g.171605881A>G (hg19) ; chr1:g.171636741A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.171636741A>G , CM000663.2:g.171636741A>G	GRCh38
NC_000001.10:g.171605881A>G , CM000663.1:g.171605881A>G	GRCh37
NC_000001.9:g.169872504A>G	NCBI36
NG_008859.1:g.20893T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000037502.11:c.731-32T>C (MYOC) MANE Select	ENSP00000037502.5:n.731-32T>C
ENST00000637303.1:c.235-1889A>G (MYOCOS)	ENSP00000490048.1:n.235-1889A>G
ENST00000638471.1:c.*69-32T>C (MYOC)	ENSP00000491206.1:n.*69-32T>C
ENST00000037502.10:c.731-32T>C (MYOC)	ENSP00000037502.5:n.731-32T>C
ENST00000614688.1:c.731-32T>C (MYOC)	ENSP00000478680.1:n.731-32T>C
NM_000261.1:c.731-32T>C (MYOC)	NP_000252.1:n.731-32T>C
NM_000261.2:c.731-32T>C (MYOC) MANE Select	NP_000252.1:n.731-32T>C