Canonical Allele Identifier: CA10652426

Gene: RYR1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38586536T>C , CM000681.2:g.38586536T>C	GRCh38
NC_000019.9:g.39077176T>C , CM000681.1:g.39077176T>C	GRCh37
NC_000019.8:g.43769016T>C	NCBI36
NG_008866.1:g.157837T>C , LRG_766:g.157837T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000540.3:c.14981T>C MANE Select	NP_000531.2:p.Met4994Thr
ENST00000359596.8:c.14981T>C MANE Select	ENSP00000352608.2:p.Met4994Thr
NM_000540.2:c.14981T>C , LRG_766t1:c.14981T>C	NP_000531.2:p.Met4994Thr
NM_001042723.1:c.14966T>C	NP_001036188.1:p.Met4989Thr
NM_001042723.2:c.14966T>C	NP_001036188.1:p.Met4989Thr
ENST00000355481.8:c.14966T>C	ENSP00000347667.3:p.Met4989Thr
ENST00000359596.7:c.14981T>C	ENSP00000352608.2:p.Met4994Thr
ENST00000360985.7:c.14963T>C	ENSP00000354254.4:p.Met4988Thr
ENST00000593677.2:c.1917T>C
ENST00000688602.1:c.3314T>C
ENST00000689936.1:c.3286T>C
ENST00000692547.1:n.374T>C
XM_006723317.1:c.14963T>C	XP_006723380.1:p.Met4988Thr
XM_006723317.2:c.14963T>C	XP_006723380.1:p.Met4988Thr
XM_006723319.1:c.14948T>C	XP_006723382.1:p.Met4983Thr
XM_006723319.2:c.14948T>C	XP_006723382.1:p.Met4983Thr
XM_011527204.1:c.14978T>C	XP_011525506.1:p.Met4993Thr
XM_011527205.1:c.14894T>C	XP_011525507.1:p.Met4965Thr
XM_011527205.2:c.14894T>C	XP_011525507.1:p.Met4965Thr