Canonical Allele Identifier: CA1009130131

Gene: MYOC MYOCOS

Linked Data

• dbSNP Id: rs1652903774
• gnomAD v3: 1-171635810-T-G
• gnomAD v4: 1-171635810-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.171635810T>G , CM000663.2:g.171635810T>G	GRCh38
NC_000001.10:g.171604950T>G , CM000663.1:g.171604950T>G	GRCh37
NC_000001.9:g.169871573T>G	NCBI36
NG_008859.1:g.21824A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000037502.11:c.*115A>C (MYOC) MANE Select	ENSP00000037502.5:n.*115A>C
ENST00000637303.1:c.235-2820T>G (MYOCOS)	ENSP00000490048.1:n.235-2820T>G
ENST00000638471.1:c.*968A>C (MYOC)	ENSP00000491206.1:n.*968A>C
ENST00000037502.10:c.*115A>C (MYOC)	ENSP00000037502.5:n.*115A>C
ENST00000614688.1:c.*594A>C (MYOC)	ENSP00000478680.1:n.*594A>C
NM_000261.1:c.*115A>C (MYOC)	NP_000252.1:n.*115A>C
NM_000261.2:c.*115A>C (MYOC) MANE Select	NP_000252.1:n.*115A>C