Canonical Allele Identifier: CA995742448

Gene: RYR1

Linked Data

• dbSNP Id: rs1974360738
• gnomAD v3: 19-38584412-CATCCTGGCCCTGACCCCTCTGCCTGTGCCCCCCACCCAACCTGGCCCTGACCCTTCTGCCTGTACCCCCCATTCCAGCCCTGACCCCTCTGCCTGTGCCCCCCCATGCTAGCCCTGACCCCTCTCCCTGTGCCCCCCTATCCTGGCCCTGACCCCTCTGCCTGTGCCCCCCTTATCCTGGCCCTGATTCCCCTGCCAGTGCCCCCCATCCCAGCCCTGACCCCTCTGCCTGTGCCCCCCTT-C
• gnomAD v4: 19-38584412-CATCCTGGCCCTGACCCCTCTGCCTGTGCCCCCCACCCAACCTGGCCCTGACCCTTCTGCCTGTACCCCCCATTCCAGCCCTGACCCCTCTGCCTGTGCCCCCCCATGCTAGCCCTGACCCCTCTCCCTGTGCCCCCCTATCCTGGCCCTGACCCCTCTGCCTGTGCCCCCCTTATCCTGGCCCTGATTCCCCTGCCAGTGCCCCCCATCCCAGCCCTGACCCCTCTGCCTGTGCCCCCCTT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38584447_38584687del , CM000681.2:g.38584447_38584687del	GRCh38
NC_000019.9:g.39075087_39075327del , CM000681.1:g.39075087_39075327del	GRCh37
NC_000019.8:g.43766927_43767167del	NCBI36
NG_008866.1:g.155748_155988del , LRG_766:g.155748_155988del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.1583-496_1583-256del
ENST00000688602.1:c.2980-496_2980-256del
ENST00000689936.1:c.2952-496_2952-256del
ENST00000359596.8:c.14647-496_14647-256del MANE Select	ENSP00000352608.2:n.14647-496_14647-256del
ENST00000355481.8:c.14632-496_14632-256del	ENSP00000347667.3:n.14632-496_14632-256del
ENST00000359596.7:c.14647-496_14647-256del	ENSP00000352608.2:n.14647-496_14647-256del
ENST00000360985.7:c.14629-496_14629-256del	ENSP00000354254.4:n.14629-496_14629-256del
NM_000540.2:c.14647-496_14647-256del , LRG_766t1:c.14647-496_14647-256del	NP_000531.2:n.14647-496_14647-256del
NM_001042723.1:c.14632-496_14632-256del	NP_001036188.1:n.14632-496_14632-256del
XM_006723317.1:c.14629-496_14629-256del	XP_006723380.1:n.14629-496_14629-256del
XM_006723319.1:c.14614-496_14614-256del	XP_006723382.1:n.14614-496_14614-256del
XM_011527204.1:c.14644-496_14644-256del	XP_011525506.1:n.14644-496_14644-256del
XM_011527205.1:c.14560-496_14560-256del	XP_011525507.1:n.14560-496_14560-256del
XM_006723317.2:c.14629-496_14629-256del	XP_006723380.1:n.14629-496_14629-256del
XM_006723319.2:c.14614-496_14614-256del	XP_006723382.1:n.14614-496_14614-256del
XM_011527205.2:c.14560-496_14560-256del	XP_011525507.1:n.14560-496_14560-256del
NM_000540.3:c.14647-496_14647-256del MANE Select	NP_000531.2:n.14647-496_14647-256del
NM_001042723.2:c.14632-496_14632-256del	NP_001036188.1:n.14632-496_14632-256del