Canonical Allele Identifier: CA507356240

Gene: RYR1

Linked Data

• dbSNP Id: rs2145870433
• MyVariant Identifiers: chr19:g.39062886C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38572246C>T , CM000681.2:g.38572246C>T	GRCh38
NC_000019.9:g.39062886C>T , CM000681.1:g.39062886C>T	GRCh37
NC_000019.8:g.43754726C>T	NCBI36
NG_008866.1:g.143547C>T , LRG_766:g.143547C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.910C>T
ENST00000688602.1:c.2307C>T
ENST00000689936.1:c.2279C>T
ENST00000359596.8:c.13974C>T MANE Select	ENSP00000352608.2:p.Cys4658=
ENST00000355481.8:c.13959C>T	ENSP00000347667.3:p.Cys4653=
ENST00000359596.7:c.13974C>T	ENSP00000352608.2:p.Cys4658=
ENST00000360985.7:c.13956C>T	ENSP00000354254.4:p.Cys4652=
NM_000540.2:c.13974C>T , LRG_766t1:c.13974C>T	NP_000531.2:p.Cys4658=
NM_001042723.1:c.13959C>T	NP_001036188.1:p.Cys4653=
XM_006723317.1:c.13956C>T	XP_006723380.1:p.Cys4652=
XM_006723319.1:c.13941C>T	XP_006723382.1:p.Cys4647=
XM_011527204.1:c.13971C>T	XP_011525506.1:p.Cys4657=
XM_011527205.1:c.13887C>T	XP_011525507.1:p.Cys4629=
XM_006723317.2:c.13956C>T	XP_006723380.1:p.Cys4652=
XM_006723319.2:c.13941C>T	XP_006723382.1:p.Cys4647=
XM_011527205.2:c.13887C>T	XP_011525507.1:p.Cys4629=
NM_000540.3:c.13974C>T MANE Select	NP_000531.2:p.Cys4658=
NM_001042723.2:c.13959C>T	NP_001036188.1:p.Cys4653=