Canonical Allele Identifier: CA995740277

Gene: RYR1

Linked Data

• dbSNP Id: rs1974118128
• gnomAD v3: 19-38579827-T-G
• gnomAD v4: 19-38579827-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38579827T>G , CM000681.2:g.38579827T>G	GRCh38
NC_000019.9:g.39070467T>G , CM000681.1:g.39070467T>G	GRCh37
NC_000019.8:g.43762307T>G	NCBI36
NG_008866.1:g.151128T>G , LRG_766:g.151128T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.1301-155T>G
ENST00000688602.1:c.2698-155T>G
ENST00000689936.1:c.2670-155T>G
ENST00000359596.8:c.14365-155T>G MANE Select	ENSP00000352608.2:n.14365-155T>G
ENST00000355481.8:c.14350-155T>G	ENSP00000347667.3:n.14350-155T>G
ENST00000359596.7:c.14365-155T>G	ENSP00000352608.2:n.14365-155T>G
ENST00000360985.7:c.14347-155T>G	ENSP00000354254.4:n.14347-155T>G
NM_000540.2:c.14365-155T>G , LRG_766t1:c.14365-155T>G	NP_000531.2:n.14365-155T>G
NM_001042723.1:c.14350-155T>G	NP_001036188.1:n.14350-155T>G
XM_006723317.1:c.14347-155T>G	XP_006723380.1:n.14347-155T>G
XM_006723319.1:c.14332-155T>G	XP_006723382.1:n.14332-155T>G
XM_011527204.1:c.14362-155T>G	XP_011525506.1:n.14362-155T>G
XM_011527205.1:c.14278-155T>G	XP_011525507.1:n.14278-155T>G
XM_006723317.2:c.14347-155T>G	XP_006723380.1:n.14347-155T>G
XM_006723319.2:c.14332-155T>G	XP_006723382.1:n.14332-155T>G
XM_011527205.2:c.14278-155T>G	XP_011525507.1:n.14278-155T>G
NM_000540.3:c.14365-155T>G MANE Select	NP_000531.2:n.14365-155T>G
NM_001042723.2:c.14350-155T>G	NP_001036188.1:n.14350-155T>G