Canonical Allele Identifier: CA081223

Gene: RYR1

Linked Data

• ClinVar Variation Id: 2150937
• ClinVar RCV Id: RCV003067819 ; RCV004009358
• dbSNP Id: rs1043862103
• gnomAD v2: 19-39070678-C-T
• gnomAD v3: 19-38580038-C-T
• gnomAD v4: 19-38580038-C-T
• MyVariant Identifiers: chr19:g.39070678C>T (hg19) ; chr19:g.38580038C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38580038C>T , CM000681.2:g.38580038C>T	GRCh38
NC_000019.9:g.39070678C>T , CM000681.1:g.39070678C>T	GRCh37
NC_000019.8:g.43762518C>T	NCBI36
NG_008866.1:g.151339C>T , LRG_766:g.151339C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.1357C>T
ENST00000688602.1:c.2754C>T
ENST00000689936.1:c.2726C>T
ENST00000359596.8:c.14421C>T MANE Select	ENSP00000352608.2:p.Asn4807=
ENST00000355481.8:c.14406C>T	ENSP00000347667.3:p.Asn4802=
ENST00000359596.7:c.14421C>T	ENSP00000352608.2:p.Asn4807=
ENST00000360985.7:c.14403C>T	ENSP00000354254.4:p.Asn4801=
NM_000540.2:c.14421C>T , LRG_766t1:c.14421C>T	NP_000531.2:p.Asn4807=
NM_001042723.1:c.14406C>T	NP_001036188.1:p.Asn4802=
XM_006723317.1:c.14403C>T	XP_006723380.1:p.Asn4801=
XM_006723319.1:c.14388C>T	XP_006723382.1:p.Asn4796=
XM_011527204.1:c.14418C>T	XP_011525506.1:p.Asn4806=
XM_011527205.1:c.14334C>T	XP_011525507.1:p.Asn4778=
XM_006723317.2:c.14403C>T	XP_006723380.1:p.Asn4801=
XM_006723319.2:c.14388C>T	XP_006723382.1:p.Asn4796=
XM_011527205.2:c.14334C>T	XP_011525507.1:p.Asn4778=
NM_000540.3:c.14421C>T MANE Select	NP_000531.2:p.Asn4807=
NM_001042723.2:c.14406C>T	NP_001036188.1:p.Asn4802=