Canonical Allele Identifier: CA405682093

Gene: RYR1

Linked Data

• dbSNP Id: rs1275139597
• gnomAD v2: 19-39063861-G-T
• gnomAD v4: 19-38573221-G-T
• MyVariant Identifiers: chr19:g.39063861G>T (hg19) ; chr19:g.38573221G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38573221G>T , CM000681.2:g.38573221G>T	GRCh38
NC_000019.9:g.39063861G>T , CM000681.1:g.39063861G>T	GRCh37
NC_000019.8:g.43755701G>T	NCBI36
NG_008866.1:g.144522G>T , LRG_766:g.144522G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.979G>T
ENST00000688602.1:c.2376G>T
ENST00000689936.1:c.2348G>T
ENST00000359596.8:c.14043G>T MANE Select	ENSP00000352608.2:p.Lys4681Asn
ENST00000355481.8:c.14028G>T	ENSP00000347667.3:p.Lys4676Asn
ENST00000359596.7:c.14043G>T	ENSP00000352608.2:p.Lys4681Asn
ENST00000360985.7:c.14025G>T	ENSP00000354254.4:p.Lys4675Asn
NM_000540.2:c.14043G>T , LRG_766t1:c.14043G>T	NP_000531.2:p.Lys4681Asn
NM_001042723.1:c.14028G>T	NP_001036188.1:p.Lys4676Asn
XM_006723317.1:c.14025G>T	XP_006723380.1:p.Lys4675Asn
XM_006723319.1:c.14010G>T	XP_006723382.1:p.Lys4670Asn
XM_011527204.1:c.14040G>T	XP_011525506.1:p.Lys4680Asn
XM_011527205.1:c.13956G>T	XP_011525507.1:p.Lys4652Asn
XM_006723317.2:c.14025G>T	XP_006723380.1:p.Lys4675Asn
XM_006723319.2:c.14010G>T	XP_006723382.1:p.Lys4670Asn
XM_011527205.2:c.13956G>T	XP_011525507.1:p.Lys4652Asn
NM_000540.3:c.14043G>T MANE Select	NP_000531.2:p.Lys4681Asn
NM_001042723.2:c.14028G>T	NP_001036188.1:p.Lys4676Asn