Canonical Allele Identifier: CA1244021

Linked Data

dbSNP Id: rs376735175

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.171635990T>G , CM000663.2:g.171635990T>G GRCh38
NC_000001.10:g.171605130T>G , CM000663.1:g.171605130T>G GRCh37
NC_000001.9:g.169871753T>G NCBI36
NG_008859.1:g.21644A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000037502.11:c.1450A>C (MYOC) MANE Select ENSP00000037502.5:p.Lys484Gln
ENST00000637303.1:c.235-2640T>G (MYOCOS) ENSP00000490048.1:n.235-2640T>G
ENST00000638471.1:c.*788A>C (MYOC) ENSP00000491206.1:n.*788A>C
ENST00000037502.10:c.1450A>C (MYOC) ENSP00000037502.5:p.Lys484Gln
ENST00000614688.1:c.*414A>C (MYOC) ENSP00000478680.1:n.*414A>C
NM_000261.1:c.1450A>C (MYOC) NP_000252.1:p.Lys484Gln
NM_000261.2:c.1450A>C (MYOC) MANE Select NP_000252.1:p.Lys484Gln