Canonical Allele Identifier: CA061476

Gene: RYR1

Linked Data

• dbSNP Id: rs756317257
• ExAC: 19:39075571 C / G
• gnomAD v2: 19-39075571-C-G
• gnomAD v4: 19-38584931-C-G
• MyVariant Identifiers: chr19:g.39075571C>G (hg19) ; chr19:g.38584931C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38584931C>G , CM000681.2:g.38584931C>G	GRCh38
NC_000019.9:g.39075571C>G , CM000681.1:g.39075571C>G	GRCh37
NC_000019.8:g.43767411C>G	NCBI36
NG_008866.1:g.156232C>G , LRG_766:g.156232C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000593677.2:c.1583-12C>G
ENST00000688602.1:c.2980-12C>G
ENST00000689936.1:c.2952-12C>G
ENST00000692547.1:n.28C>G
ENST00000359596.8:c.14647-12C>G MANE Select	ENSP00000352608.2:n.14647-12C>G
ENST00000355481.8:c.14632-12C>G	ENSP00000347667.3:n.14632-12C>G
ENST00000359596.7:c.14647-12C>G	ENSP00000352608.2:n.14647-12C>G
ENST00000360985.7:c.14629-12C>G	ENSP00000354254.4:n.14629-12C>G
NM_000540.2:c.14647-12C>G , LRG_766t1:c.14647-12C>G	NP_000531.2:n.14647-12C>G
NM_001042723.1:c.14632-12C>G	NP_001036188.1:n.14632-12C>G
XM_006723317.1:c.14629-12C>G	XP_006723380.1:n.14629-12C>G
XM_006723319.1:c.14614-12C>G	XP_006723382.1:n.14614-12C>G
XM_011527204.1:c.14644-12C>G	XP_011525506.1:n.14644-12C>G
XM_011527205.1:c.14560-12C>G	XP_011525507.1:n.14560-12C>G
XM_006723317.2:c.14629-12C>G	XP_006723380.1:n.14629-12C>G
XM_006723319.2:c.14614-12C>G	XP_006723382.1:n.14614-12C>G
XM_011527205.2:c.14560-12C>G	XP_011525507.1:n.14560-12C>G
NM_000540.3:c.14647-12C>G MANE Select	NP_000531.2:n.14647-12C>G
NM_001042723.2:c.14632-12C>G	NP_001036188.1:n.14632-12C>G