Canonical Allele Identifier: CA405681257

Gene: RYR1

Linked Data

• dbSNP Id: rs2145870301
• MyVariant Identifiers: chr19:g.39062854A>T (hg19) ; chr19:g.38572214A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38572214A>T , CM000681.2:g.38572214A>T	GRCh38
NC_000019.9:g.39062854A>T , CM000681.1:g.39062854A>T	GRCh37
NC_000019.8:g.43754694A>T	NCBI36
NG_008866.1:g.143515A>T , LRG_766:g.143515A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.878A>T
ENST00000688602.1:c.2275A>T
ENST00000689936.1:c.2247A>T
ENST00000359596.8:c.13942A>T MANE Select	ENSP00000352608.2:p.Ser4648Cys
ENST00000355481.8:c.13927A>T	ENSP00000347667.3:p.Ser4643Cys
ENST00000359596.7:c.13942A>T	ENSP00000352608.2:p.Ser4648Cys
ENST00000360985.7:c.13924A>T	ENSP00000354254.4:p.Ser4642Cys
ENST00000593677.1:c.402A>T
NM_000540.2:c.13942A>T , LRG_766t1:c.13942A>T	NP_000531.2:p.Ser4648Cys
NM_001042723.1:c.13927A>T	NP_001036188.1:p.Ser4643Cys
XM_006723317.1:c.13924A>T	XP_006723380.1:p.Ser4642Cys
XM_006723319.1:c.13909A>T	XP_006723382.1:p.Ser4637Cys
XM_011527204.1:c.13939A>T	XP_011525506.1:p.Ser4647Cys
XM_011527205.1:c.13855A>T	XP_011525507.1:p.Ser4619Cys
XM_006723317.2:c.13924A>T	XP_006723380.1:p.Ser4642Cys
XM_006723319.2:c.13909A>T	XP_006723382.1:p.Ser4637Cys
XM_011527205.2:c.13855A>T	XP_011525507.1:p.Ser4619Cys
NM_000540.3:c.13942A>T MANE Select	NP_000531.2:p.Ser4648Cys
NM_001042723.2:c.13927A>T	NP_001036188.1:p.Ser4643Cys