Canonical Allele Identifier: CA507355746

Gene: RYR1

Linked Data

• dbSNP Id: rs1973353438
• MyVariant Identifiers: chr19:g.39055961C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38565321C>T , CM000681.2:g.38565321C>T	GRCh38
NC_000019.9:g.39055961C>T , CM000681.1:g.39055961C>T	GRCh37
NC_000019.8:g.43747801C>T	NCBI36
NG_008866.1:g.136622C>T , LRG_766:g.136622C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000688602.1:c.1397C>T
ENST00000689936.1:c.1379C>T
ENST00000359596.8:c.12987C>T MANE Select	ENSP00000352608.2:p.Ala4329=
ENST00000355481.8:c.12972C>T	ENSP00000347667.3:p.Ala4324=
ENST00000359596.7:c.12987C>T	ENSP00000352608.2:p.Ala4329=
ENST00000360985.7:c.12969C>T	ENSP00000354254.4:p.Ala4323=
NM_000540.2:c.12987C>T , LRG_766t1:c.12987C>T	NP_000531.2:p.Ala4329=
NM_001042723.1:c.12972C>T	NP_001036188.1:p.Ala4324=
XM_006723317.1:c.12969C>T	XP_006723380.1:p.Ala4323=
XM_006723319.1:c.12954C>T	XP_006723382.1:p.Ala4318=
XM_011527204.1:c.12984C>T	XP_011525506.1:p.Ala4328=
XM_011527205.1:c.12987C>T	XP_011525507.1:p.Ala4329=
XM_006723317.2:c.12969C>T	XP_006723380.1:p.Ala4323=
XM_006723319.2:c.12954C>T	XP_006723382.1:p.Ala4318=
XM_011527205.2:c.12987C>T	XP_011525507.1:p.Ala4329=
NM_000540.3:c.12987C>T MANE Select	NP_000531.2:p.Ala4329=
NM_001042723.2:c.12972C>T	NP_001036188.1:p.Ala4324=