Canonical Allele Identifier: CA10583955

Linked Data

ClinVar Variation Id: 242274
ClinVar RCV Id: RCV000233750
dbSNP Id: rs878854408

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.171636329A>G , CM000663.2:g.171636329A>G GRCh38
NC_000001.10:g.171605469A>G , CM000663.1:g.171605469A>G GRCh37
NC_000001.9:g.169872092A>G NCBI36
NG_008859.1:g.21305T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000037502.11:c.1111T>C (MYOC) MANE Select ENSP00000037502.5:p.Tyr371His
ENST00000637303.1:c.235-2301A>G (MYOCOS) ENSP00000490048.1:n.235-2301A>G
ENST00000638471.1:c.*449T>C (MYOC) ENSP00000491206.1:n.*449T>C
ENST00000037502.10:c.1111T>C (MYOC) ENSP00000037502.5:p.Tyr371His
ENST00000614688.1:c.*75T>C (MYOC) ENSP00000478680.1:n.*75T>C
NM_000261.1:c.1111T>C (MYOC) NP_000252.1:p.Tyr371His
NM_000261.2:c.1111T>C (MYOC) MANE Select NP_000252.1:p.Tyr371His