Canonical Allele Identifier: CA2814345202

Gene: RYR1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38455516_38455517insACATG , CM000681.2:g.38455516_38455517insACATG	GRCh38
NC_000019.9:g.38946156_38946157insACATG , CM000681.1:g.38946156_38946157insACATG	GRCh37
NC_000019.8:g.43637996_43637997insACATG	NCBI36
NG_008866.1:g.26817_26818insACATG , LRG_766:g.26817_26818insACATG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000599547.6:c.1642_1643insACATG	ENSP00000471601.2:p.Ser548AsnfsTer29
ENST00000359596.8:c.1642_1643insACATG MANE Select	ENSP00000352608.2:p.Ser548AsnfsTer29
ENST00000355481.8:c.1642_1643insACATG	ENSP00000347667.3:p.Ser548AsnfsTer29
ENST00000359596.7:c.1642_1643insACATG	ENSP00000352608.2:p.Ser548AsnfsTer29
ENST00000360985.7:c.1642_1643insACATG	ENSP00000354254.4:p.Ser548AsnfsTer29
NM_000540.2:c.1642_1643insACATG , LRG_766t1:c.1642_1643insACATG	NP_000531.2:p.Ser548AsnfsTer29
NM_001042723.1:c.1642_1643insACATG	NP_001036188.1:p.Ser548AsnfsTer29
XM_006723317.1:c.1642_1643insACATG	XP_006723380.1:p.Ser548AsnfsTer29
XM_006723319.1:c.1642_1643insACATG	XP_006723382.1:p.Ser548AsnfsTer29
XM_011527204.1:c.1639_1640insACATG	XP_011525506.1:p.Ser547AsnfsTer29
XM_011527205.1:c.1642_1643insACATG	XP_011525507.1:p.Ser548AsnfsTer29
XM_006723317.2:c.1642_1643insACATG	XP_006723380.1:p.Ser548AsnfsTer29
XM_006723319.2:c.1642_1643insACATG	XP_006723382.1:p.Ser548AsnfsTer29
XM_011527205.2:c.1642_1643insACATG	XP_011525507.1:p.Ser548AsnfsTer29
XR_001753735.1:n.1725_1726insACATG
NM_000540.3:c.1642_1643insACATG MANE Select	NP_000531.2:p.Ser548AsnfsTer29
NM_001042723.2:c.1642_1643insACATG	NP_001036188.1:p.Ser548AsnfsTer29