Canonical Allele Identifier: CA507246611

Gene: RYR1

Linked Data

• gnomAD v4: 19-38586096-G-A
• MyVariant Identifiers: chr19:g.39076736G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38586096G>A , CM000681.2:g.38586096G>A	GRCh38
NC_000019.9:g.39076736G>A , CM000681.1:g.39076736G>A	GRCh37
NC_000019.8:g.43768576G>A	NCBI36
NG_008866.1:g.157397G>A , LRG_766:g.157397G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.1810G>A
ENST00000688602.1:c.3207G>A
ENST00000689936.1:c.3179G>A
ENST00000692547.1:n.267G>A
ENST00000359596.8:c.14874G>A MANE Select	ENSP00000352608.2:p.Lys4958=
ENST00000355481.8:c.14859G>A	ENSP00000347667.3:p.Lys4953=
ENST00000359596.7:c.14874G>A	ENSP00000352608.2:p.Lys4958=
ENST00000360985.7:c.14856G>A	ENSP00000354254.4:p.Lys4952=
NM_000540.2:c.14874G>A , LRG_766t1:c.14874G>A	NP_000531.2:p.Lys4958=
NM_001042723.1:c.14859G>A	NP_001036188.1:p.Lys4953=
XM_006723317.1:c.14856G>A	XP_006723380.1:p.Lys4952=
XM_006723319.1:c.14841G>A	XP_006723382.1:p.Lys4947=
XM_011527204.1:c.14871G>A	XP_011525506.1:p.Lys4957=
XM_011527205.1:c.14787G>A	XP_011525507.1:p.Lys4929=
XM_006723317.2:c.14856G>A	XP_006723380.1:p.Lys4952=
XM_006723319.2:c.14841G>A	XP_006723382.1:p.Lys4947=
XM_011527205.2:c.14787G>A	XP_011525507.1:p.Lys4929=
NM_000540.3:c.14874G>A MANE Select	NP_000531.2:p.Lys4958=
NM_001042723.2:c.14859G>A	NP_001036188.1:p.Lys4953=