Canonical Allele Identifier: CA074173

Gene: RYR1

Linked Data

• ClinVar Variation Id: 1444637
• ClinVar RCV Id: RCV001992406
• dbSNP Id: rs761792934
• ExAC: 19:39008121 A / T
• gnomAD v2: 19-39008121-A-T
• gnomAD v4: 19-38517481-A-T
• MyVariant Identifiers: chr19:g.39008121A>T (hg19) ; chr19:g.38517481A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38517481A>T , CM000681.2:g.38517481A>T	GRCh38
NC_000019.9:g.39008121A>T , CM000681.1:g.39008121A>T	GRCh37
NC_000019.8:g.43699961A>T	NCBI36
NG_008866.1:g.88782A>T , LRG_766:g.88782A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000599547.6:c.9747A>T	ENSP00000471601.2:n.9747A>T
ENST00000359596.8:c.9808A>T MANE Select	ENSP00000352608.2:p.Ile3270Phe
ENST00000355481.8:c.9808A>T	ENSP00000347667.3:p.Ile3270Phe
ENST00000359596.7:c.9808A>T	ENSP00000352608.2:p.Ile3270Phe
ENST00000360985.7:c.9805A>T	ENSP00000354254.4:p.Ile3269Phe
ENST00000594335.5:c.3210A>T
ENST00000599547.5:c.615A>T
NM_000540.2:c.9808A>T , LRG_766t1:c.9808A>T	NP_000531.2:p.Ile3270Phe
NM_001042723.1:c.9808A>T	NP_001036188.1:p.Ile3270Phe
XM_006723317.1:c.9808A>T	XP_006723380.1:p.Ile3270Phe
XM_006723319.1:c.9808A>T	XP_006723382.1:p.Ile3270Phe
XM_011527204.1:c.9805A>T	XP_011525506.1:p.Ile3269Phe
XM_011527205.1:c.9808A>T	XP_011525507.1:p.Ile3270Phe
XM_006723317.2:c.9808A>T	XP_006723380.1:p.Ile3270Phe
XM_006723319.2:c.9808A>T	XP_006723382.1:p.Ile3270Phe
XM_011527205.2:c.9808A>T	XP_011525507.1:p.Ile3270Phe
NM_000540.3:c.9808A>T MANE Select	NP_000531.2:p.Ile3270Phe
NM_001042723.2:c.9808A>T	NP_001036188.1:p.Ile3270Phe