Canonical Allele Identifier: CA343723786

Linked Data

dbSNP Id: rs1652913073

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.171636120G>T , CM000663.2:g.171636120G>T GRCh38
NC_000001.10:g.171605260G>T , CM000663.1:g.171605260G>T GRCh37
NC_000001.9:g.169871883G>T NCBI36
NG_008859.1:g.21514C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000037502.11:c.1320C>A (MYOC) MANE Select ENSP00000037502.5:p.Ser440Arg
ENST00000637303.1:c.235-2510G>T (MYOCOS) ENSP00000490048.1:n.235-2510G>T
ENST00000638471.1:c.*658C>A (MYOC) ENSP00000491206.1:n.*658C>A
ENST00000037502.10:c.1320C>A (MYOC) ENSP00000037502.5:p.Ser440Arg
ENST00000614688.1:c.*284C>A (MYOC) ENSP00000478680.1:n.*284C>A
NM_000261.1:c.1320C>A (MYOC) NP_000252.1:p.Ser440Arg
NM_000261.2:c.1320C>A (MYOC) MANE Select NP_000252.1:p.Ser440Arg