Canonical Allele Identifier: CA405694156

Gene: RYR1

Linked Data

• MyVariant Identifiers: chr19:g.39077996G>C (hg19) ; chr19:g.38587356G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38587356G>C , CM000681.2:g.38587356G>C	GRCh38
NC_000019.9:g.39077996G>C , CM000681.1:g.39077996G>C	GRCh37
NC_000019.8:g.43769836G>C	NCBI36
NG_008866.1:g.158657G>C , LRG_766:g.158657G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000593677.2:c.1957+780G>C
ENST00000688602.1:c.3386G>C
ENST00000689936.1:c.3358G>C
ENST00000692547.1:n.446G>C
ENST00000359596.8:c.15053G>C MANE Select	ENSP00000352608.2:p.Arg5018Thr
ENST00000355481.8:c.15038G>C	ENSP00000347667.3:p.Arg5013Thr
ENST00000359596.7:c.15053G>C	ENSP00000352608.2:p.Arg5018Thr
ENST00000360985.7:c.15035G>C	ENSP00000354254.4:p.Arg5012Thr
NM_000540.2:c.15053G>C , LRG_766t1:c.15053G>C	NP_000531.2:p.Arg5018Thr
NM_001042723.1:c.15038G>C	NP_001036188.1:p.Arg5013Thr
XM_006723317.1:c.15035G>C	XP_006723380.1:p.Arg5012Thr
XM_006723319.1:c.15020G>C	XP_006723382.1:p.Arg5007Thr
XM_011527204.1:c.15050G>C	XP_011525506.1:p.Arg5017Thr
XM_011527205.1:c.14966G>C	XP_011525507.1:p.Arg4989Thr
XM_006723317.2:c.15035G>C	XP_006723380.1:p.Arg5012Thr
XM_006723319.2:c.15020G>C	XP_006723382.1:p.Arg5007Thr
XM_011527205.2:c.14966G>C	XP_011525507.1:p.Arg4989Thr
NM_000540.3:c.15053G>C MANE Select	NP_000531.2:p.Arg5018Thr
NM_001042723.2:c.15038G>C	NP_001036188.1:p.Arg5013Thr