Canonical Allele Identifier: CA308125459

Gene: RYR1

Linked Data

• dbSNP Id: rs118192150
• MyVariant Identifiers: chr19:g.39075613C>G (hg19) ; chr19:g.38584973C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38584973C>G , CM000681.2:g.38584973C>G	GRCh38
NC_000019.9:g.39075613C>G , CM000681.1:g.39075613C>G	GRCh37
NC_000019.8:g.43767453C>G	NCBI36
NG_008866.1:g.156274C>G , LRG_766:g.156274C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000593677.2:c.1613C>G
ENST00000688602.1:c.3010C>G
ENST00000689936.1:c.2982C>G
ENST00000692547.1:n.70C>G
ENST00000359596.8:c.14677C>G MANE Select	ENSP00000352608.2:p.Arg4893Gly
ENST00000355481.8:c.14662C>G	ENSP00000347667.3:p.Arg4888Gly
ENST00000359596.7:c.14677C>G	ENSP00000352608.2:p.Arg4893Gly
ENST00000360985.7:c.14659C>G	ENSP00000354254.4:p.Arg4887Gly
NM_000540.2:c.14677C>G , LRG_766t1:c.14677C>G	NP_000531.2:p.Arg4893Gly
NM_001042723.1:c.14662C>G	NP_001036188.1:p.Arg4888Gly
XM_006723317.1:c.14659C>G	XP_006723380.1:p.Arg4887Gly
XM_006723319.1:c.14644C>G	XP_006723382.1:p.Arg4882Gly
XM_011527204.1:c.14674C>G	XP_011525506.1:p.Arg4892Gly
XM_011527205.1:c.14590C>G	XP_011525507.1:p.Arg4864Gly
XM_006723317.2:c.14659C>G	XP_006723380.1:p.Arg4887Gly
XM_006723319.2:c.14644C>G	XP_006723382.1:p.Arg4882Gly
XM_011527205.2:c.14590C>G	XP_011525507.1:p.Arg4864Gly
NM_000540.3:c.14677C>G MANE Select	NP_000531.2:p.Arg4893Gly
NM_001042723.2:c.14662C>G	NP_001036188.1:p.Arg4888Gly