Canonical Allele Identifier: CA081264

Gene: RYR1

Linked Data

• dbSNP Id: rs1266054221
• gnomAD v2: 19-39071093-C-T
• MyVariant Identifiers: chr19:g.39071093C>T (hg19) ; chr19:g.38580453C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38580453C>T , CM000681.2:g.38580453C>T	GRCh38
NC_000019.9:g.39071093C>T , CM000681.1:g.39071093C>T	GRCh37
NC_000019.8:g.43762933C>T	NCBI36
NG_008866.1:g.151754C>T , LRG_766:g.151754C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000593677.2:c.1531C>T
ENST00000688602.1:c.2928C>T
ENST00000689936.1:c.2900C>T
ENST00000359596.8:c.14595C>T MANE Select	ENSP00000352608.2:p.Asn4865=
ENST00000355481.8:c.14580C>T	ENSP00000347667.3:p.Asn4860=
ENST00000359596.7:c.14595C>T	ENSP00000352608.2:p.Asn4865=
ENST00000360985.7:c.14577C>T	ENSP00000354254.4:p.Asn4859=
NM_000540.2:c.14595C>T , LRG_766t1:c.14595C>T	NP_000531.2:p.Asn4865=
NM_001042723.1:c.14580C>T	NP_001036188.1:p.Asn4860=
XM_006723317.1:c.14577C>T	XP_006723380.1:p.Asn4859=
XM_006723319.1:c.14562C>T	XP_006723382.1:p.Asn4854=
XM_011527204.1:c.14592C>T	XP_011525506.1:p.Asn4864=
XM_011527205.1:c.14508C>T	XP_011525507.1:p.Asn4836=
XM_006723317.2:c.14577C>T	XP_006723380.1:p.Asn4859=
XM_006723319.2:c.14562C>T	XP_006723382.1:p.Asn4854=
XM_011527205.2:c.14508C>T	XP_011525507.1:p.Asn4836=
NM_000540.3:c.14595C>T MANE Select	NP_000531.2:p.Asn4865=
NM_001042723.2:c.14580C>T	NP_001036188.1:p.Asn4860=