Canonical Allele Identifier: CA405692844

Gene: RYR1

Linked Data

• MyVariant Identifiers: chr19:g.39076760T>G (hg19) ; chr19:g.38586120T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38586120T>G , CM000681.2:g.38586120T>G	GRCh38
NC_000019.9:g.39076760T>G , CM000681.1:g.39076760T>G	GRCh37
NC_000019.8:g.43768600T>G	NCBI36
NG_008866.1:g.157421T>G , LRG_766:g.157421T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.1834T>G
ENST00000688602.1:c.3231T>G
ENST00000689936.1:c.3203T>G
ENST00000692547.1:n.291T>G
ENST00000359596.8:c.14898T>G MANE Select	ENSP00000352608.2:p.Ser4966Arg
ENST00000355481.8:c.14883T>G	ENSP00000347667.3:p.Ser4961Arg
ENST00000359596.7:c.14898T>G	ENSP00000352608.2:p.Ser4966Arg
ENST00000360985.7:c.14880T>G	ENSP00000354254.4:p.Ser4960Arg
NM_000540.2:c.14898T>G , LRG_766t1:c.14898T>G	NP_000531.2:p.Ser4966Arg
NM_001042723.1:c.14883T>G	NP_001036188.1:p.Ser4961Arg
XM_006723317.1:c.14880T>G	XP_006723380.1:p.Ser4960Arg
XM_006723319.1:c.14865T>G	XP_006723382.1:p.Ser4955Arg
XM_011527204.1:c.14895T>G	XP_011525506.1:p.Ser4965Arg
XM_011527205.1:c.14811T>G	XP_011525507.1:p.Ser4937Arg
XM_006723317.2:c.14880T>G	XP_006723380.1:p.Ser4960Arg
XM_006723319.2:c.14865T>G	XP_006723382.1:p.Ser4955Arg
XM_011527205.2:c.14811T>G	XP_011525507.1:p.Ser4937Arg
NM_000540.3:c.14898T>G MANE Select	NP_000531.2:p.Ser4966Arg
NM_001042723.2:c.14883T>G	NP_001036188.1:p.Ser4961Arg