Canonical Allele Identifier: CA1244099

Linked Data

ClinVar Variation Id: 2570630
ClinVar RCV Id: RCV003307390
dbSNP Id: rs201206951

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.171636439A>G , CM000663.2:g.171636439A>G GRCh38
NC_000001.10:g.171605579A>G , CM000663.1:g.171605579A>G GRCh37
NC_000001.9:g.169872202A>G NCBI36
NG_008859.1:g.21195T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000037502.11:c.1001T>C (MYOC) MANE Select ENSP00000037502.5:p.Leu334Pro
ENST00000637303.1:c.235-2191A>G (MYOCOS) ENSP00000490048.1:n.235-2191A>G
ENST00000638471.1:c.*339T>C (MYOC) ENSP00000491206.1:n.*339T>C
ENST00000037502.10:c.1001T>C (MYOC) ENSP00000037502.5:p.Leu334Pro
ENST00000614688.1:c.1001T>C (MYOC) ENSP00000478680.1:p.Leu334Pro
NM_000261.1:c.1001T>C (MYOC) NP_000252.1:p.Leu334Pro
NM_000261.2:c.1001T>C (MYOC) MANE Select NP_000252.1:p.Leu334Pro