Canonical Allele Identifier: CA507246384

Gene: RYR1

Linked Data

• MyVariant Identifiers: chr19:g.39075672C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38585032C>A , CM000681.2:g.38585032C>A	GRCh38
NC_000019.9:g.39075672C>A , CM000681.1:g.39075672C>A	GRCh37
NC_000019.8:g.43767512C>A	NCBI36
NG_008866.1:g.156333C>A , LRG_766:g.156333C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.1672C>A
ENST00000688602.1:c.3069C>A
ENST00000689936.1:c.3041C>A
ENST00000692547.1:n.129C>A
ENST00000359596.8:c.14736C>A MANE Select	ENSP00000352608.2:p.Leu4912=
ENST00000355481.8:c.14721C>A	ENSP00000347667.3:p.Leu4907=
ENST00000359596.7:c.14736C>A	ENSP00000352608.2:p.Leu4912=
ENST00000360985.7:c.14718C>A	ENSP00000354254.4:p.Leu4906=
NM_000540.2:c.14736C>A , LRG_766t1:c.14736C>A	NP_000531.2:p.Leu4912=
NM_001042723.1:c.14721C>A	NP_001036188.1:p.Leu4907=
XM_006723317.1:c.14718C>A	XP_006723380.1:p.Leu4906=
XM_006723319.1:c.14703C>A	XP_006723382.1:p.Leu4901=
XM_011527204.1:c.14733C>A	XP_011525506.1:p.Leu4911=
XM_011527205.1:c.14649C>A	XP_011525507.1:p.Leu4883=
XM_006723317.2:c.14718C>A	XP_006723380.1:p.Leu4906=
XM_006723319.2:c.14703C>A	XP_006723382.1:p.Leu4901=
XM_011527205.2:c.14649C>A	XP_011525507.1:p.Leu4883=
NM_000540.3:c.14736C>A MANE Select	NP_000531.2:p.Leu4912=
NM_001042723.2:c.14721C>A	NP_001036188.1:p.Leu4907=