Canonical Allele Identifier: CA2697508729

Linked Data

dbSNP Id: rs2102944877

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.171636713G>T , CM000663.2:g.171636713G>T GRCh38
NC_000001.10:g.171605853G>T , CM000663.1:g.171605853G>T GRCh37
NC_000001.9:g.169872476G>T NCBI36
NG_008859.1:g.20921C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000037502.11:c.731-4C>A (MYOC) MANE Select ENSP00000037502.5:n.731-4C>A
ENST00000637303.1:c.235-1917G>T (MYOCOS) ENSP00000490048.1:n.235-1917G>T
ENST00000638471.1:c.*69-4C>A (MYOC) ENSP00000491206.1:n.*69-4C>A
ENST00000037502.10:c.731-4C>A (MYOC) ENSP00000037502.5:n.731-4C>A
ENST00000614688.1:c.731-4C>A (MYOC) ENSP00000478680.1:n.731-4C>A
NM_000261.1:c.731-4C>A (MYOC) NP_000252.1:n.731-4C>A
NM_000261.2:c.731-4C>A (MYOC) MANE Select NP_000252.1:n.731-4C>A