Canonical Allele Identifier: CA507356252

Gene: RYR1

Linked Data

• dbSNP Id: rs2145870478
• MyVariant Identifiers: chr19:g.39062898T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38572258T>C , CM000681.2:g.38572258T>C	GRCh38
NC_000019.9:g.39062898T>C , CM000681.1:g.39062898T>C	GRCh37
NC_000019.8:g.43754738T>C	NCBI36
NG_008866.1:g.143559T>C , LRG_766:g.143559T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.922T>C
ENST00000688602.1:c.2319T>C
ENST00000689936.1:c.2291T>C
ENST00000359596.8:c.13986T>C MANE Select	ENSP00000352608.2:p.Tyr4662=
ENST00000355481.8:c.13971T>C	ENSP00000347667.3:p.Tyr4657=
ENST00000359596.7:c.13986T>C	ENSP00000352608.2:p.Tyr4662=
ENST00000360985.7:c.13968T>C	ENSP00000354254.4:p.Tyr4656=
NM_000540.2:c.13986T>C , LRG_766t1:c.13986T>C	NP_000531.2:p.Tyr4662=
NM_001042723.1:c.13971T>C	NP_001036188.1:p.Tyr4657=
XM_006723317.1:c.13968T>C	XP_006723380.1:p.Tyr4656=
XM_006723319.1:c.13953T>C	XP_006723382.1:p.Tyr4651=
XM_011527204.1:c.13983T>C	XP_011525506.1:p.Tyr4661=
XM_011527205.1:c.13899T>C	XP_011525507.1:p.Tyr4633=
XM_006723317.2:c.13968T>C	XP_006723380.1:p.Tyr4656=
XM_006723319.2:c.13953T>C	XP_006723382.1:p.Tyr4651=
XM_011527205.2:c.13899T>C	XP_011525507.1:p.Tyr4633=
NM_000540.3:c.13986T>C MANE Select	NP_000531.2:p.Tyr4662=
NM_001042723.2:c.13971T>C	NP_001036188.1:p.Tyr4657=