Canonical Allele Identifier: CA068437

Gene: RYR1

Linked Data

• dbSNP Id: rs778947596
• ExAC: 19:38986879 C / T
• gnomAD v2: 19-38986879-C-T
• gnomAD v4: 19-38496239-C-T
• MyVariant Identifiers: chr19:g.38986879C>T (hg19) ; chr19:g.38496239C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38496239C>T , CM000681.2:g.38496239C>T	GRCh38
NC_000019.9:g.38986879C>T , CM000681.1:g.38986879C>T	GRCh37
NC_000019.8:g.43678719C>T	NCBI36
NG_008866.1:g.67540C>T , LRG_766:g.67540C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000599547.6:c.6573C>T	ENSP00000471601.2:p.Phe2191=
ENST00000359596.8:c.6573C>T MANE Select	ENSP00000352608.2:p.Phe2191=
ENST00000355481.8:c.6573C>T	ENSP00000347667.3:p.Phe2191=
ENST00000359596.7:c.6573C>T	ENSP00000352608.2:p.Phe2191=
ENST00000360985.7:c.6570C>T	ENSP00000354254.4:p.Phe2190=
ENST00000594335.5:c.25C>T
NM_000540.2:c.6573C>T , LRG_766t1:c.6573C>T	NP_000531.2:p.Phe2191=
NM_001042723.1:c.6573C>T	NP_001036188.1:p.Phe2191=
XM_006723317.1:c.6573C>T	XP_006723380.1:p.Phe2191=
XM_006723319.1:c.6573C>T	XP_006723382.1:p.Phe2191=
XM_011527204.1:c.6570C>T	XP_011525506.1:p.Phe2190=
XM_011527205.1:c.6573C>T	XP_011525507.1:p.Phe2191=
XM_006723317.2:c.6573C>T	XP_006723380.1:p.Phe2191=
XM_006723319.2:c.6573C>T	XP_006723382.1:p.Phe2191=
XM_011527205.2:c.6573C>T	XP_011525507.1:p.Phe2191=
XR_001753735.1:n.6656C>T
NM_000540.3:c.6573C>T MANE Select	NP_000531.2:p.Phe2191=
NM_001042723.2:c.6573C>T	NP_001036188.1:p.Phe2191=