Canonical Allele Identifier: CA405690839

Gene: RYR1

Linked Data

• MyVariant Identifiers: chr19:g.39075692T>G (hg19) ; chr19:g.38585052T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38585052T>G , CM000681.2:g.38585052T>G	GRCh38
NC_000019.9:g.39075692T>G , CM000681.1:g.39075692T>G	GRCh37
NC_000019.8:g.43767532T>G	NCBI36
NG_008866.1:g.156353T>G , LRG_766:g.156353T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.1692T>G
ENST00000688602.1:c.3089T>G
ENST00000689936.1:c.3061T>G
ENST00000692547.1:n.149T>G
ENST00000359596.8:c.14756T>G MANE Select	ENSP00000352608.2:p.Ile4919Ser
ENST00000355481.8:c.14741T>G	ENSP00000347667.3:p.Ile4914Ser
ENST00000359596.7:c.14756T>G	ENSP00000352608.2:p.Ile4919Ser
ENST00000360985.7:c.14738T>G	ENSP00000354254.4:p.Ile4913Ser
NM_000540.2:c.14756T>G , LRG_766t1:c.14756T>G	NP_000531.2:p.Ile4919Ser
NM_001042723.1:c.14741T>G	NP_001036188.1:p.Ile4914Ser
XM_006723317.1:c.14738T>G	XP_006723380.1:p.Ile4913Ser
XM_006723319.1:c.14723T>G	XP_006723382.1:p.Ile4908Ser
XM_011527204.1:c.14753T>G	XP_011525506.1:p.Ile4918Ser
XM_011527205.1:c.14669T>G	XP_011525507.1:p.Ile4890Ser
XM_006723317.2:c.14738T>G	XP_006723380.1:p.Ile4913Ser
XM_006723319.2:c.14723T>G	XP_006723382.1:p.Ile4908Ser
XM_011527205.2:c.14669T>G	XP_011525507.1:p.Ile4890Ser
NM_000540.3:c.14756T>G MANE Select	NP_000531.2:p.Ile4919Ser
NM_001042723.2:c.14741T>G	NP_001036188.1:p.Ile4914Ser