Canonical Allele Identifier: CA308114165

Gene: RYR1

Linked Data

• dbSNP Id: rs939036392
• MyVariant Identifiers: chr19:g.39062857C>T (hg19) ; chr19:g.38572217C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38572217C>T , CM000681.2:g.38572217C>T	GRCh38
NC_000019.9:g.39062857C>T , CM000681.1:g.39062857C>T	GRCh37
NC_000019.8:g.43754697C>T	NCBI36
NG_008866.1:g.143518C>T , LRG_766:g.143518C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.881C>T
ENST00000688602.1:c.2278C>T
ENST00000689936.1:c.2250C>T
ENST00000359596.8:c.13945C>T MANE Select	ENSP00000352608.2:p.Leu4649Phe
ENST00000355481.8:c.13930C>T	ENSP00000347667.3:p.Leu4644Phe
ENST00000359596.7:c.13945C>T	ENSP00000352608.2:p.Leu4649Phe
ENST00000360985.7:c.13927C>T	ENSP00000354254.4:p.Leu4643Phe
ENST00000593677.1:c.405C>T
NM_000540.2:c.13945C>T , LRG_766t1:c.13945C>T	NP_000531.2:p.Leu4649Phe
NM_001042723.1:c.13930C>T	NP_001036188.1:p.Leu4644Phe
XM_006723317.1:c.13927C>T	XP_006723380.1:p.Leu4643Phe
XM_006723319.1:c.13912C>T	XP_006723382.1:p.Leu4638Phe
XM_011527204.1:c.13942C>T	XP_011525506.1:p.Leu4648Phe
XM_011527205.1:c.13858C>T	XP_011525507.1:p.Leu4620Phe
XM_006723317.2:c.13927C>T	XP_006723380.1:p.Leu4643Phe
XM_006723319.2:c.13912C>T	XP_006723382.1:p.Leu4638Phe
XM_011527205.2:c.13858C>T	XP_011525507.1:p.Leu4620Phe
NM_000540.3:c.13945C>T MANE Select	NP_000531.2:p.Leu4649Phe
NM_001042723.2:c.13930C>T	NP_001036188.1:p.Leu4644Phe