Canonical Allele Identifier: CA633066231

Gene: RYR1

Linked Data

• dbSNP Id: rs1568506125
• gnomAD v2: 19-38993400-G-GGCAGGA
• gnomAD v4: 19-38502760-G-GGCAGGA
• MyVariant Identifiers: chr19:g.38993406_38993454delinsAGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGA (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38502765_38502766insAGCAGG , CM000681.2:g.38502765_38502766insAGCAGG	GRCh38
NC_000019.9:g.38993405_38993406insAGCAGG , CM000681.1:g.38993405_38993406insAGCAGG	GRCh37
NC_000019.8:g.43685245_43685246insAGCAGG	NCBI36
NG_008866.1:g.74066_74067insAGCAGG , LRG_766:g.74066_74067insAGCAGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000599547.6:c.7835+38_7835+39insAGCAGG	ENSP00000471601.2:n.7835+38_7835+39insAGCAGG
ENST00000359596.8:c.7835+38_7835+39insAGCAGG MANE Select	ENSP00000352608.2:n.7835+38_7835+39insAGCAGG
ENST00000355481.8:c.7835+38_7835+39insAGCAGG	ENSP00000347667.3:n.7835+38_7835+39insAGCAGG
ENST00000359596.7:c.7835+38_7835+39insAGCAGG	ENSP00000352608.2:n.7835+38_7835+39insAGCAGG
ENST00000360985.7:c.7832+38_7832+39insAGCAGG	ENSP00000354254.4:n.7832+38_7832+39insAGCAGG
ENST00000594335.5:c.1287+38_1287+39insAGCAGG
NM_000540.2:c.7835+38_7835+39insAGCAGG , LRG_766t1:c.7835+38_7835+39insAGCAGG	NP_000531.2:n.7835+38_7835+39insAGCAGG
NM_001042723.1:c.7835+38_7835+39insAGCAGG	NP_001036188.1:n.7835+38_7835+39insAGCAGG
XM_006723317.1:c.7835+38_7835+39insAGCAGG	XP_006723380.1:n.7835+38_7835+39insAGCAGG
XM_006723319.1:c.7835+38_7835+39insAGCAGG	XP_006723382.1:n.7835+38_7835+39insAGCAGG
XM_011527204.1:c.7832+38_7832+39insAGCAGG	XP_011525506.1:n.7832+38_7832+39insAGCAGG
XM_011527205.1:c.7835+38_7835+39insAGCAGG	XP_011525507.1:n.7835+38_7835+39insAGCAGG
XM_006723317.2:c.7835+38_7835+39insAGCAGG	XP_006723380.1:n.7835+38_7835+39insAGCAGG
XM_006723319.2:c.7835+38_7835+39insAGCAGG	XP_006723382.1:n.7835+38_7835+39insAGCAGG
XM_011527205.2:c.7835+38_7835+39insAGCAGG	XP_011525507.1:n.7835+38_7835+39insAGCAGG
XR_001753735.1:n.7918+38_7918+39insAGCAGG
NM_000540.3:c.7835+38_7835+39insAGCAGG MANE Select	NP_000531.2:n.7835+38_7835+39insAGCAGG
NM_001042723.2:c.7835+38_7835+39insAGCAGG	NP_001036188.1:n.7835+38_7835+39insAGCAGG