Canonical Allele Identifier: CA405693398

Gene: RYR1

Linked Data

• MyVariant Identifiers: chr19:g.39076827T>C (hg19) ; chr19:g.38586187T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38586187T>C , CM000681.2:g.38586187T>C	GRCh38
NC_000019.9:g.39076827T>C , CM000681.1:g.39076827T>C	GRCh37
NC_000019.8:g.43768667T>C	NCBI36
NG_008866.1:g.157488T>C , LRG_766:g.157488T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.1901T>C
ENST00000688602.1:c.3298T>C
ENST00000689936.1:c.3270T>C
ENST00000692547.1:n.358T>C
ENST00000359596.8:c.14965T>C MANE Select	ENSP00000352608.2:p.Tyr4989His
ENST00000355481.8:c.14950T>C	ENSP00000347667.3:p.Tyr4984His
ENST00000359596.7:c.14965T>C	ENSP00000352608.2:p.Tyr4989His
ENST00000360985.7:c.14947T>C	ENSP00000354254.4:p.Tyr4983His
NM_000540.2:c.14965T>C , LRG_766t1:c.14965T>C	NP_000531.2:p.Tyr4989His
NM_001042723.1:c.14950T>C	NP_001036188.1:p.Tyr4984His
XM_006723317.1:c.14947T>C	XP_006723380.1:p.Tyr4983His
XM_006723319.1:c.14932T>C	XP_006723382.1:p.Tyr4978His
XM_011527204.1:c.14962T>C	XP_011525506.1:p.Tyr4988His
XM_011527205.1:c.14878T>C	XP_011525507.1:p.Tyr4960His
XM_006723317.2:c.14947T>C	XP_006723380.1:p.Tyr4983His
XM_006723319.2:c.14932T>C	XP_006723382.1:p.Tyr4978His
XM_011527205.2:c.14878T>C	XP_011525507.1:p.Tyr4960His
NM_000540.3:c.14965T>C MANE Select	NP_000531.2:p.Tyr4989His
NM_001042723.2:c.14950T>C	NP_001036188.1:p.Tyr4984His