Canonical Allele Identifier: CA405692621

Gene: RYR1

Linked Data

• MyVariant Identifiers: chr19:g.39076737T>A (hg19) ; chr19:g.38586097T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38586097T>A , CM000681.2:g.38586097T>A	GRCh38
NC_000019.9:g.39076737T>A , CM000681.1:g.39076737T>A	GRCh37
NC_000019.8:g.43768577T>A	NCBI36
NG_008866.1:g.157398T>A , LRG_766:g.157398T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.1811T>A
ENST00000688602.1:c.3208T>A
ENST00000689936.1:c.3180T>A
ENST00000692547.1:n.268T>A
ENST00000359596.8:c.14875T>A MANE Select	ENSP00000352608.2:p.Cys4959Ser
ENST00000355481.8:c.14860T>A	ENSP00000347667.3:p.Cys4954Ser
ENST00000359596.7:c.14875T>A	ENSP00000352608.2:p.Cys4959Ser
ENST00000360985.7:c.14857T>A	ENSP00000354254.4:p.Cys4953Ser
NM_000540.2:c.14875T>A , LRG_766t1:c.14875T>A	NP_000531.2:p.Cys4959Ser
NM_001042723.1:c.14860T>A	NP_001036188.1:p.Cys4954Ser
XM_006723317.1:c.14857T>A	XP_006723380.1:p.Cys4953Ser
XM_006723319.1:c.14842T>A	XP_006723382.1:p.Cys4948Ser
XM_011527204.1:c.14872T>A	XP_011525506.1:p.Cys4958Ser
XM_011527205.1:c.14788T>A	XP_011525507.1:p.Cys4930Ser
XM_006723317.2:c.14857T>A	XP_006723380.1:p.Cys4953Ser
XM_006723319.2:c.14842T>A	XP_006723382.1:p.Cys4948Ser
XM_011527205.2:c.14788T>A	XP_011525507.1:p.Cys4930Ser
NM_000540.3:c.14875T>A MANE Select	NP_000531.2:p.Cys4959Ser
NM_001042723.2:c.14860T>A	NP_001036188.1:p.Cys4954Ser