Canonical Allele Identifier: CA343724143

Linked Data

ClinVar Variation Id: 2575096
ClinVar RCV Id: RCV003320021
dbSNP Id: rs1270841723

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.171636185T>C , CM000663.2:g.171636185T>C GRCh38
NC_000001.10:g.171605325T>C , CM000663.1:g.171605325T>C GRCh37
NC_000001.9:g.169871948T>C NCBI36
NG_008859.1:g.21449A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000037502.11:c.1255A>G (MYOC) MANE Select ENSP00000037502.5:p.Thr419Ala
ENST00000637303.1:c.235-2445T>C (MYOCOS) ENSP00000490048.1:n.235-2445T>C
ENST00000638471.1:c.*593A>G (MYOC) ENSP00000491206.1:n.*593A>G
ENST00000037502.10:c.1255A>G (MYOC) ENSP00000037502.5:p.Thr419Ala
ENST00000614688.1:c.*219A>G (MYOC) ENSP00000478680.1:n.*219A>G
NM_000261.1:c.1255A>G (MYOC) NP_000252.1:p.Thr419Ala
NM_000261.2:c.1255A>G (MYOC) MANE Select NP_000252.1:p.Thr419Ala