Canonical Allele Identifier: CA061321

Gene: RYR1

Linked Data

• dbSNP Id: rs780895863
• ExAC: 19:39070744 C / CTCTGTCACCCACAATGGGAAACAGGTGTGG
• gnomAD v2: 19-39070744-C-CTCTGTCACCCACAATGGGAAACAGGTGTGG
• gnomAD v4: 19-38580104-C-CTCTGTCACCCACAATGGGAAACAGGTGTGG
• MyVariant Identifiers: chr19:g.39070744_39070745insTCTGTCACCCACAATGGGAAACAGGTGTGG (hg19) ; chr19:g.38580104_38580105insTCTGTCACCCACAATGGGAAACAGGTGTGG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38580105_38580134dup , CM000681.2:g.38580105_38580134dup	GRCh38
NC_000019.9:g.39070745_39070774dup , CM000681.1:g.39070745_39070774dup	GRCh37
NC_000019.8:g.43762585_43762614dup	NCBI36
NG_008866.1:g.151406_151435dup , LRG_766:g.151406_151435dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000593677.2:c.1424_1447+6dup
ENST00000688602.1:c.2821_2844+6dup
ENST00000689936.1:c.2793_2816+6dup
ENST00000359596.8:c.14488_14511+6dup
ENST00000355481.8:c.14473_14496+6dup
ENST00000359596.7:c.14488_14511+6dup
ENST00000360985.7:c.14470_14493+6dup
NM_000540.2:c.14488_14511+6dup , LRG_766t1:c.14488_14511+6dup
NM_001042723.1:c.14473_14496+6dup
XM_006723317.1:c.14470_14493+6dup
XM_006723319.1:c.14455_14478+6dup
XM_011527204.1:c.14485_14508+6dup
XM_011527205.1:c.14401_14424+6dup
XM_006723317.2:c.14470_14493+6dup
XM_006723319.2:c.14455_14478+6dup
XM_011527205.2:c.14401_14424+6dup
NM_000540.3:c.14488_14511+6dup
NM_001042723.2:c.14473_14496+6dup