Canonical Allele Identifier: CA507356164

Gene: RYR1

Linked Data

• ClinVar Variation Id: 1157520
• ClinVar RCV Id: RCV001500634
• dbSNP Id: rs1441957717
• MyVariant Identifiers: chr19:g.39062842C>T (hg19) ; chr19:g.38572202C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38572202C>T , CM000681.2:g.38572202C>T	GRCh38
NC_000019.9:g.39062842C>T , CM000681.1:g.39062842C>T	GRCh37
NC_000019.8:g.43754682C>T	NCBI36
NG_008866.1:g.143503C>T , LRG_766:g.143503C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.866C>T
ENST00000688602.1:c.2263C>T
ENST00000689936.1:c.2235C>T
ENST00000359596.8:c.13930C>T MANE Select	ENSP00000352608.2:p.Leu4644=
ENST00000355481.8:c.13915C>T	ENSP00000347667.3:p.Leu4639=
ENST00000359596.7:c.13930C>T	ENSP00000352608.2:p.Leu4644=
ENST00000360985.7:c.13912C>T	ENSP00000354254.4:p.Leu4638=
ENST00000593677.1:c.390C>T
NM_000540.2:c.13930C>T , LRG_766t1:c.13930C>T	NP_000531.2:p.Leu4644=
NM_001042723.1:c.13915C>T	NP_001036188.1:p.Leu4639=
XM_006723317.1:c.13912C>T	XP_006723380.1:p.Leu4638=
XM_006723319.1:c.13897C>T	XP_006723382.1:p.Leu4633=
XM_011527204.1:c.13927C>T	XP_011525506.1:p.Leu4643=
XM_011527205.1:c.13843C>T	XP_011525507.1:p.Leu4615=
XM_006723317.2:c.13912C>T	XP_006723380.1:p.Leu4638=
XM_006723319.2:c.13897C>T	XP_006723382.1:p.Leu4633=
XM_011527205.2:c.13843C>T	XP_011525507.1:p.Leu4615=
NM_000540.3:c.13930C>T MANE Select	NP_000531.2:p.Leu4644=
NM_001042723.2:c.13915C>T	NP_001036188.1:p.Leu4639=