Canonical Allele Identifier: CA074014

Gene: RYR1

Linked Data

• ClinVar Variation Id: 1628760
• ClinVar RCV Id: RCV002114513
• dbSNP Id: rs375434330
• ExAC: 19:39007983 C / T
• gnomAD v2: 19-39007983-C-T
• gnomAD v3: 19-38517343-C-T
• gnomAD v4: 19-38517343-C-T
• MyVariant Identifiers: chr19:g.39007983C>T (hg19) ; chr19:g.38517343C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38517343C>T , CM000681.2:g.38517343C>T	GRCh38
NC_000019.9:g.39007983C>T , CM000681.1:g.39007983C>T	GRCh37
NC_000019.8:g.43699823C>T	NCBI36
NG_008866.1:g.88644C>T , LRG_766:g.88644C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000599547.6:c.9625-16C>T	ENSP00000471601.2:n.9625-16C>T
ENST00000359596.8:c.9686-16C>T MANE Select	ENSP00000352608.2:n.9686-16C>T
ENST00000355481.8:c.9686-16C>T	ENSP00000347667.3:n.9686-16C>T
ENST00000359596.7:c.9686-16C>T	ENSP00000352608.2:n.9686-16C>T
ENST00000360985.7:c.9683-16C>T	ENSP00000354254.4:n.9683-16C>T
ENST00000594335.5:c.3088-16C>T
ENST00000599547.5:c.493-16C>T
NM_000540.2:c.9686-16C>T , LRG_766t1:c.9686-16C>T	NP_000531.2:n.9686-16C>T
NM_001042723.1:c.9686-16C>T	NP_001036188.1:n.9686-16C>T
XM_006723317.1:c.9686-16C>T	XP_006723380.1:n.9686-16C>T
XM_006723319.1:c.9686-16C>T	XP_006723382.1:n.9686-16C>T
XM_011527204.1:c.9683-16C>T	XP_011525506.1:n.9683-16C>T
XM_011527205.1:c.9686-16C>T	XP_011525507.1:n.9686-16C>T
XM_006723317.2:c.9686-16C>T	XP_006723380.1:n.9686-16C>T
XM_006723319.2:c.9686-16C>T	XP_006723382.1:n.9686-16C>T
XM_011527205.2:c.9686-16C>T	XP_011525507.1:n.9686-16C>T
XR_001753735.1:n.9719-16C>T
NM_000540.3:c.9686-16C>T MANE Select	NP_000531.2:n.9686-16C>T
NM_001042723.2:c.9686-16C>T	NP_001036188.1:n.9686-16C>T