Canonical Allele Identifier: CA507356128
Gene: RYR1 HGNC NCBI

Linked Data

dbSNP Id: rs755854964
MyVariant Identifiers: chr19:g.39071081C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38580441C>G , CM000681.2:g.38580441C>G GRCh38
NC_000019.9:g.39071081C>G , CM000681.1:g.39071081C>G GRCh37
NC_000019.8:g.43762921C>G NCBI36
NG_008866.1:g.151742C>G , LRG_766:g.151742C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000593677.2:c.1519C>G
ENST00000688602.1:c.2916C>G
ENST00000689936.1:c.2888C>G
ENST00000359596.8:c.14583C>G MANE Select ENSP00000352608.2:p.Arg4861=
ENST00000355481.8:c.14568C>G ENSP00000347667.3:p.Arg4856=
ENST00000359596.7:c.14583C>G ENSP00000352608.2:p.Arg4861=
ENST00000360985.7:c.14565C>G ENSP00000354254.4:p.Arg4855=
NM_000540.2:c.14583C>G , LRG_766t1:c.14583C>G NP_000531.2:p.Arg4861=
NM_001042723.1:c.14568C>G NP_001036188.1:p.Arg4856=
XM_006723317.1:c.14565C>G XP_006723380.1:p.Arg4855=
XM_006723319.1:c.14550C>G XP_006723382.1:p.Arg4850=
XM_011527204.1:c.14580C>G XP_011525506.1:p.Arg4860=
XM_011527205.1:c.14496C>G XP_011525507.1:p.Arg4832=
XM_006723317.2:c.14565C>G XP_006723380.1:p.Arg4855=
XM_006723319.2:c.14550C>G XP_006723382.1:p.Arg4850=
XM_011527205.2:c.14496C>G XP_011525507.1:p.Arg4832=
NM_000540.3:c.14583C>G MANE Select NP_000531.2:p.Arg4861=
NM_001042723.2:c.14568C>G NP_001036188.1:p.Arg4856=