Canonical Allele Identifier: CA405680490

Gene: RYR1

Linked Data

• MyVariant Identifiers: chr19:g.39062732G>C (hg19) ; chr19:g.38572092G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38572092G>C , CM000681.2:g.38572092G>C	GRCh38
NC_000019.9:g.39062732G>C , CM000681.1:g.39062732G>C	GRCh37
NC_000019.8:g.43754572G>C	NCBI36
NG_008866.1:g.143393G>C , LRG_766:g.143393G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000593677.2:c.756G>C
ENST00000688602.1:c.2153G>C
ENST00000689936.1:c.2125G>C
ENST00000359596.8:c.13820G>C MANE Select	ENSP00000352608.2:p.Gly4607Ala
ENST00000355481.8:c.13805G>C	ENSP00000347667.3:p.Gly4602Ala
ENST00000359596.7:c.13820G>C	ENSP00000352608.2:p.Gly4607Ala
ENST00000360985.7:c.13802G>C	ENSP00000354254.4:p.Gly4601Ala
ENST00000593677.1:c.280G>C
NM_000540.2:c.13820G>C , LRG_766t1:c.13820G>C	NP_000531.2:p.Gly4607Ala
NM_001042723.1:c.13805G>C	NP_001036188.1:p.Gly4602Ala
XM_006723317.1:c.13802G>C	XP_006723380.1:p.Gly4601Ala
XM_006723319.1:c.13787G>C	XP_006723382.1:p.Gly4596Ala
XM_011527204.1:c.13817G>C	XP_011525506.1:p.Gly4606Ala
XM_011527205.1:c.13733G>C	XP_011525507.1:p.Gly4578Ala
XM_006723317.2:c.13802G>C	XP_006723380.1:p.Gly4601Ala
XM_006723319.2:c.13787G>C	XP_006723382.1:p.Gly4596Ala
XM_011527205.2:c.13733G>C	XP_011525507.1:p.Gly4578Ala
NM_000540.3:c.13820G>C MANE Select	NP_000531.2:p.Gly4607Ala
NM_001042723.2:c.13805G>C	NP_001036188.1:p.Gly4602Ala