Canonical Allele Identifier: CA2335084889

Gene: RYR1

Linked Data

• dbSNP Id: rs1973363599

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38565454_38565455insCA , CM000681.2:g.38565454_38565455insCA	GRCh38
NC_000019.9:g.39056094_39056095insCA , CM000681.1:g.39056094_39056095insCA	GRCh37
NC_000019.8:g.43747934_43747935insCA	NCBI36
NG_008866.1:g.136755_136756insCA , LRG_766:g.136755_136756insCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.56_57insCA
ENST00000688602.1:c.1530_1531insCA
ENST00000689936.1:c.1512_1513insCA
ENST00000359596.8:c.13120_13121insCA MANE Select	ENSP00000352608.2:p.Val4374AlafsTer2
ENST00000355481.8:c.13105_13106insCA	ENSP00000347667.3:p.Val4369AlafsTer2
ENST00000359596.7:c.13120_13121insCA	ENSP00000352608.2:p.Val4374AlafsTer2
ENST00000360985.7:c.13102_13103insCA	ENSP00000354254.4:p.Val4368AlafsTer2
NM_000540.2:c.13120_13121insCA , LRG_766t1:c.13120_13121insCA	NP_000531.2:p.Val4374AlafsTer2
NM_001042723.1:c.13105_13106insCA	NP_001036188.1:p.Val4369AlafsTer2
XM_006723317.1:c.13102_13103insCA	XP_006723380.1:p.Val4368AlafsTer2
XM_006723319.1:c.13087_13088insCA	XP_006723382.1:p.Val4363AlafsTer2
XM_011527204.1:c.13117_13118insCA	XP_011525506.1:p.Val4373AlafsTer2
XM_011527205.1:c.13120_13121insCA	XP_011525507.1:p.Val4374AlafsTer2
XM_006723317.2:c.13102_13103insCA	XP_006723380.1:p.Val4368AlafsTer2
XM_006723319.2:c.13087_13088insCA	XP_006723382.1:p.Val4363AlafsTer2
XM_011527205.2:c.13120_13121insCA	XP_011525507.1:p.Val4374AlafsTer2
NM_000540.3:c.13120_13121insCA MANE Select	NP_000531.2:p.Val4374AlafsTer2
NM_001042723.2:c.13105_13106insCA	NP_001036188.1:p.Val4369AlafsTer2