Canonical Allele Identifier: CA405672248

Gene: RYR1

Linked Data

• dbSNP Id: rs751048059
• gnomAD v4: 19-38502696-G-C
• MyVariant Identifiers: chr19:g.38993336G>C (hg19) ; chr19:g.38502696G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38502696G>C , CM000681.2:g.38502696G>C	GRCh38
NC_000019.9:g.38993336G>C , CM000681.1:g.38993336G>C	GRCh37
NC_000019.8:g.43685176G>C	NCBI36
NG_008866.1:g.73997G>C , LRG_766:g.73997G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000599547.6:c.7804G>C	ENSP00000471601.2:p.Val2602Leu
ENST00000359596.8:c.7804G>C MANE Select	ENSP00000352608.2:p.Val2602Leu
ENST00000355481.8:c.7804G>C	ENSP00000347667.3:p.Val2602Leu
ENST00000359596.7:c.7804G>C	ENSP00000352608.2:p.Val2602Leu
ENST00000360985.7:c.7801G>C	ENSP00000354254.4:p.Val2601Leu
ENST00000594335.5:c.1256G>C
NM_000540.2:c.7804G>C , LRG_766t1:c.7804G>C	NP_000531.2:p.Val2602Leu
NM_001042723.1:c.7804G>C	NP_001036188.1:p.Val2602Leu
XM_006723317.1:c.7804G>C	XP_006723380.1:p.Val2602Leu
XM_006723319.1:c.7804G>C	XP_006723382.1:p.Val2602Leu
XM_011527204.1:c.7801G>C	XP_011525506.1:p.Val2601Leu
XM_011527205.1:c.7804G>C	XP_011525507.1:p.Val2602Leu
XM_006723317.2:c.7804G>C	XP_006723380.1:p.Val2602Leu
XM_006723319.2:c.7804G>C	XP_006723382.1:p.Val2602Leu
XM_011527205.2:c.7804G>C	XP_011525507.1:p.Val2602Leu
XR_001753735.1:n.7887G>C
NM_000540.3:c.7804G>C MANE Select	NP_000531.2:p.Val2602Leu
NM_001042723.2:c.7804G>C	NP_001036188.1:p.Val2602Leu