Canonical Allele Identifier: CA405692892

Gene: RYR1

Linked Data

• MyVariant Identifiers: chr19:g.39076765A>C (hg19) ; chr19:g.38586125A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38586125A>C , CM000681.2:g.38586125A>C	GRCh38
NC_000019.9:g.39076765A>C , CM000681.1:g.39076765A>C	GRCh37
NC_000019.8:g.43768605A>C	NCBI36
NG_008866.1:g.157426A>C , LRG_766:g.157426A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.1839A>C
ENST00000688602.1:c.3236A>C
ENST00000689936.1:c.3208A>C
ENST00000692547.1:n.296A>C
ENST00000359596.8:c.14903A>C MANE Select	ENSP00000352608.2:p.Tyr4968Ser
ENST00000355481.8:c.14888A>C	ENSP00000347667.3:p.Tyr4963Ser
ENST00000359596.7:c.14903A>C	ENSP00000352608.2:p.Tyr4968Ser
ENST00000360985.7:c.14885A>C	ENSP00000354254.4:p.Tyr4962Ser
NM_000540.2:c.14903A>C , LRG_766t1:c.14903A>C	NP_000531.2:p.Tyr4968Ser
NM_001042723.1:c.14888A>C	NP_001036188.1:p.Tyr4963Ser
XM_006723317.1:c.14885A>C	XP_006723380.1:p.Tyr4962Ser
XM_006723319.1:c.14870A>C	XP_006723382.1:p.Tyr4957Ser
XM_011527204.1:c.14900A>C	XP_011525506.1:p.Tyr4967Ser
XM_011527205.1:c.14816A>C	XP_011525507.1:p.Tyr4939Ser
XM_006723317.2:c.14885A>C	XP_006723380.1:p.Tyr4962Ser
XM_006723319.2:c.14870A>C	XP_006723382.1:p.Tyr4957Ser
XM_011527205.2:c.14816A>C	XP_011525507.1:p.Tyr4939Ser
NM_000540.3:c.14903A>C MANE Select	NP_000531.2:p.Tyr4968Ser
NM_001042723.2:c.14888A>C	NP_001036188.1:p.Tyr4963Ser