Canonical Allele Identifier: CA507246726

Gene: RYR1

Linked Data

• MyVariant Identifiers: chr19:g.39076805G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38586165G>C , CM000681.2:g.38586165G>C	GRCh38
NC_000019.9:g.39076805G>C , CM000681.1:g.39076805G>C	GRCh37
NC_000019.8:g.43768645G>C	NCBI36
NG_008866.1:g.157466G>C , LRG_766:g.157466G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.1879G>C
ENST00000688602.1:c.3276G>C
ENST00000689936.1:c.3248G>C
ENST00000692547.1:n.336G>C
ENST00000359596.8:c.14943G>C MANE Select	ENSP00000352608.2:p.Leu4981=
ENST00000355481.8:c.14928G>C	ENSP00000347667.3:p.Leu4976=
ENST00000359596.7:c.14943G>C	ENSP00000352608.2:p.Leu4981=
ENST00000360985.7:c.14925G>C	ENSP00000354254.4:p.Leu4975=
NM_000540.2:c.14943G>C , LRG_766t1:c.14943G>C	NP_000531.2:p.Leu4981=
NM_001042723.1:c.14928G>C	NP_001036188.1:p.Leu4976=
XM_006723317.1:c.14925G>C	XP_006723380.1:p.Leu4975=
XM_006723319.1:c.14910G>C	XP_006723382.1:p.Leu4970=
XM_011527204.1:c.14940G>C	XP_011525506.1:p.Leu4980=
XM_011527205.1:c.14856G>C	XP_011525507.1:p.Leu4952=
XM_006723317.2:c.14925G>C	XP_006723380.1:p.Leu4975=
XM_006723319.2:c.14910G>C	XP_006723382.1:p.Leu4970=
XM_011527205.2:c.14856G>C	XP_011525507.1:p.Leu4952=
NM_000540.3:c.14943G>C MANE Select	NP_000531.2:p.Leu4981=
NM_001042723.2:c.14928G>C	NP_001036188.1:p.Leu4976=