Canonical Allele Identifier: CA061802

Gene: RYR1

Linked Data

• dbSNP Id: rs754615557
• ExAC: 19:39076776 A / T
• gnomAD v2: 19-39076776-A-T
• gnomAD v4: 19-38586136-A-T
• MyVariant Identifiers: chr19:g.39076776A>T (hg19) ; chr19:g.38586136A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38586136A>T , CM000681.2:g.38586136A>T	GRCh38
NC_000019.9:g.39076776A>T , CM000681.1:g.39076776A>T	GRCh37
NC_000019.8:g.43768616A>T	NCBI36
NG_008866.1:g.157437A>T , LRG_766:g.157437A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.1850A>T
ENST00000688602.1:c.3247A>T
ENST00000689936.1:c.3219A>T
ENST00000692547.1:n.307A>T
ENST00000359596.8:c.14914A>T MANE Select	ENSP00000352608.2:p.Thr4972Ser
ENST00000355481.8:c.14899A>T	ENSP00000347667.3:p.Thr4967Ser
ENST00000359596.7:c.14914A>T	ENSP00000352608.2:p.Thr4972Ser
ENST00000360985.7:c.14896A>T	ENSP00000354254.4:p.Thr4966Ser
NM_000540.2:c.14914A>T , LRG_766t1:c.14914A>T	NP_000531.2:p.Thr4972Ser
NM_001042723.1:c.14899A>T	NP_001036188.1:p.Thr4967Ser
XM_006723317.1:c.14896A>T	XP_006723380.1:p.Thr4966Ser
XM_006723319.1:c.14881A>T	XP_006723382.1:p.Thr4961Ser
XM_011527204.1:c.14911A>T	XP_011525506.1:p.Thr4971Ser
XM_011527205.1:c.14827A>T	XP_011525507.1:p.Thr4943Ser
XM_006723317.2:c.14896A>T	XP_006723380.1:p.Thr4966Ser
XM_006723319.2:c.14881A>T	XP_006723382.1:p.Thr4961Ser
XM_011527205.2:c.14827A>T	XP_011525507.1:p.Thr4943Ser
NM_000540.3:c.14914A>T MANE Select	NP_000531.2:p.Thr4972Ser
NM_001042723.2:c.14899A>T	NP_001036188.1:p.Thr4967Ser