Canonical Allele Identifier: CA405662893

Gene: RYR1

Linked Data

• dbSNP Id: rs1418918554
• gnomAD v2: 19-39034474-T-C
• gnomAD v4: 19-38543834-T-C
• MyVariant Identifiers: chr19:g.39034474T>C (hg19) ; chr19:g.38543834T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38543834T>C , CM000681.2:g.38543834T>C	GRCh38
NC_000019.9:g.39034474T>C , CM000681.1:g.39034474T>C	GRCh37
NC_000019.8:g.43726314T>C	NCBI36
NG_008866.1:g.115135T>C , LRG_766:g.115135T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000688602.1:c.381T>C
ENST00000689936.1:c.363T>C
ENST00000359596.8:c.11971T>C MANE Select	ENSP00000352608.2:p.Phe3991Leu
ENST00000355481.8:c.11956T>C	ENSP00000347667.3:p.Phe3986Leu
ENST00000359596.7:c.11971T>C	ENSP00000352608.2:p.Phe3991Leu
ENST00000360985.7:c.11953T>C	ENSP00000354254.4:p.Phe3985Leu
ENST00000593322.1:c.580T>C
ENST00000594335.5:c.5340T>C
NM_000540.2:c.11971T>C , LRG_766t1:c.11971T>C	NP_000531.2:p.Phe3991Leu
NM_001042723.1:c.11956T>C	NP_001036188.1:p.Phe3986Leu
XM_006723317.1:c.11953T>C	XP_006723380.1:p.Phe3985Leu
XM_006723319.1:c.11938T>C	XP_006723382.1:p.Phe3980Leu
XM_011527204.1:c.11968T>C	XP_011525506.1:p.Phe3990Leu
XM_011527205.1:c.11971T>C	XP_011525507.1:p.Phe3991Leu
XM_006723317.2:c.11953T>C	XP_006723380.1:p.Phe3985Leu
XM_006723319.2:c.11938T>C	XP_006723382.1:p.Phe3980Leu
XM_011527205.2:c.11971T>C	XP_011525507.1:p.Phe3991Leu
NM_000540.3:c.11971T>C MANE Select	NP_000531.2:p.Phe3991Leu
NM_001042723.2:c.11956T>C	NP_001036188.1:p.Phe3986Leu