Canonical Allele Identifier: CA343724539

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.171636293C>G , CM000663.2:g.171636293C>G GRCh38
NC_000001.10:g.171605433C>G , CM000663.1:g.171605433C>G GRCh37
NC_000001.9:g.169872056C>G NCBI36
NG_008859.1:g.21341G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000037502.11:c.1147G>C (MYOC) MANE Select ENSP00000037502.5:p.Val383Leu
ENST00000637303.1:c.235-2337C>G (MYOCOS) ENSP00000490048.1:n.235-2337C>G
ENST00000638471.1:c.*485G>C (MYOC) ENSP00000491206.1:n.*485G>C
ENST00000037502.10:c.1147G>C (MYOC) ENSP00000037502.5:p.Val383Leu
ENST00000614688.1:c.*111G>C (MYOC) ENSP00000478680.1:n.*111G>C
NM_000261.1:c.1147G>C (MYOC) NP_000252.1:p.Val383Leu
NM_000261.2:c.1147G>C (MYOC) MANE Select NP_000252.1:p.Val383Leu