Canonical Allele Identifier: CA061513

Gene: RYR1

Linked Data

• ClinVar Variation Id: 697129
• ClinVar RCV Id: RCV000863837
• dbSNP Id: rs376144636
• ExAC: 19:39075621 C / T
• gnomAD v2: 19-39075621-C-T
• gnomAD v3: 19-38584981-C-T
• gnomAD v4: 19-38584981-C-T
• MyVariant Identifiers: chr19:g.39075621C>T (hg19) ; chr19:g.38584981C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38584981C>T , CM000681.2:g.38584981C>T	GRCh38
NC_000019.9:g.39075621C>T , CM000681.1:g.39075621C>T	GRCh37
NC_000019.8:g.43767461C>T	NCBI36
NG_008866.1:g.156282C>T , LRG_766:g.156282C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000593677.2:c.1621C>T
ENST00000688602.1:c.3018C>T
ENST00000689936.1:c.2990C>T
ENST00000692547.1:n.78C>T
ENST00000359596.8:c.14685C>T MANE Select	ENSP00000352608.2:p.Gly4895=
ENST00000355481.8:c.14670C>T	ENSP00000347667.3:p.Gly4890=
ENST00000359596.7:c.14685C>T	ENSP00000352608.2:p.Gly4895=
ENST00000360985.7:c.14667C>T	ENSP00000354254.4:p.Gly4889=
NM_000540.2:c.14685C>T , LRG_766t1:c.14685C>T	NP_000531.2:p.Gly4895=
NM_001042723.1:c.14670C>T	NP_001036188.1:p.Gly4890=
XM_006723317.1:c.14667C>T	XP_006723380.1:p.Gly4889=
XM_006723319.1:c.14652C>T	XP_006723382.1:p.Gly4884=
XM_011527204.1:c.14682C>T	XP_011525506.1:p.Gly4894=
XM_011527205.1:c.14598C>T	XP_011525507.1:p.Gly4866=
XM_006723317.2:c.14667C>T	XP_006723380.1:p.Gly4889=
XM_006723319.2:c.14652C>T	XP_006723382.1:p.Gly4884=
XM_011527205.2:c.14598C>T	XP_011525507.1:p.Gly4866=
NM_000540.3:c.14685C>T MANE Select	NP_000531.2:p.Gly4895=
NM_001042723.2:c.14670C>T	NP_001036188.1:p.Gly4890=