Canonical Allele Identifier: CA995742655

Gene: RYR1

Linked Data

• dbSNP Id: rs1974368668
• gnomAD v3: 19-38584485-TCCAGCCCTGACCCCTCTGCCTGTGCCCCCCCATGCTAGCCCTGACCCCTCTCCCTGTGCCCCCCTATCCTGGCCCTGACCCCTCTGCCTGTGCCCCCCTTATCCTGGCCCTGATTCCCCTGCCAGTGCCCCCCATC-T
• gnomAD v4: 19-38584485-TCCAGCCCTGACCCCTCTGCCTGTGCCCCCCCATGCTAGCCCTGACCCCTCTCCCTGTGCCCCCCTATCCTGGCCCTGACCCCTCTGCCTGTGCCCCCCTTATCCTGGCCCTGATTCCCCTGCCAGTGCCCCCCATC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38584516_38584651del , CM000681.2:g.38584516_38584651del	GRCh38
NC_000019.9:g.39075156_39075291del , CM000681.1:g.39075156_39075291del	GRCh37
NC_000019.8:g.43766996_43767131del	NCBI36
NG_008866.1:g.155817_155952del , LRG_766:g.155817_155952del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.1583-427_1583-292del
ENST00000688602.1:c.2980-427_2980-292del
ENST00000689936.1:c.2952-427_2952-292del
ENST00000359596.8:c.14647-427_14647-292del MANE Select	ENSP00000352608.2:n.14647-427_14647-292del
ENST00000355481.8:c.14632-427_14632-292del	ENSP00000347667.3:n.14632-427_14632-292del
ENST00000359596.7:c.14647-427_14647-292del	ENSP00000352608.2:n.14647-427_14647-292del
ENST00000360985.7:c.14629-427_14629-292del	ENSP00000354254.4:n.14629-427_14629-292del
NM_000540.2:c.14647-427_14647-292del , LRG_766t1:c.14647-427_14647-292del	NP_000531.2:n.14647-427_14647-292del
NM_001042723.1:c.14632-427_14632-292del	NP_001036188.1:n.14632-427_14632-292del
XM_006723317.1:c.14629-427_14629-292del	XP_006723380.1:n.14629-427_14629-292del
XM_006723319.1:c.14614-427_14614-292del	XP_006723382.1:n.14614-427_14614-292del
XM_011527204.1:c.14644-427_14644-292del	XP_011525506.1:n.14644-427_14644-292del
XM_011527205.1:c.14560-427_14560-292del	XP_011525507.1:n.14560-427_14560-292del
XM_006723317.2:c.14629-427_14629-292del	XP_006723380.1:n.14629-427_14629-292del
XM_006723319.2:c.14614-427_14614-292del	XP_006723382.1:n.14614-427_14614-292del
XM_011527205.2:c.14560-427_14560-292del	XP_011525507.1:n.14560-427_14560-292del
NM_000540.3:c.14647-427_14647-292del MANE Select	NP_000531.2:n.14647-427_14647-292del
NM_001042723.2:c.14632-427_14632-292del	NP_001036188.1:n.14632-427_14632-292del