Canonical Allele Identifier: CA405686794

Gene: RYR1

Linked Data

• MyVariant Identifiers: chr19:g.39070626T>C (hg19) ; chr19:g.38579986T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38579986T>C , CM000681.2:g.38579986T>C	GRCh38
NC_000019.9:g.39070626T>C , CM000681.1:g.39070626T>C	GRCh37
NC_000019.8:g.43762466T>C	NCBI36
NG_008866.1:g.151287T>C , LRG_766:g.151287T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.1305T>C
ENST00000688602.1:c.2702T>C
ENST00000689936.1:c.2674T>C
ENST00000359596.8:c.14369T>C MANE Select	ENSP00000352608.2:p.Phe4790Ser
ENST00000355481.8:c.14354T>C	ENSP00000347667.3:p.Phe4785Ser
ENST00000359596.7:c.14369T>C	ENSP00000352608.2:p.Phe4790Ser
ENST00000360985.7:c.14351T>C	ENSP00000354254.4:p.Phe4784Ser
NM_000540.2:c.14369T>C , LRG_766t1:c.14369T>C	NP_000531.2:p.Phe4790Ser
NM_001042723.1:c.14354T>C	NP_001036188.1:p.Phe4785Ser
XM_006723317.1:c.14351T>C	XP_006723380.1:p.Phe4784Ser
XM_006723319.1:c.14336T>C	XP_006723382.1:p.Phe4779Ser
XM_011527204.1:c.14366T>C	XP_011525506.1:p.Phe4789Ser
XM_011527205.1:c.14282T>C	XP_011525507.1:p.Phe4761Ser
XM_006723317.2:c.14351T>C	XP_006723380.1:p.Phe4784Ser
XM_006723319.2:c.14336T>C	XP_006723382.1:p.Phe4779Ser
XM_011527205.2:c.14282T>C	XP_011525507.1:p.Phe4761Ser
NM_000540.3:c.14369T>C MANE Select	NP_000531.2:p.Phe4790Ser
NM_001042723.2:c.14354T>C	NP_001036188.1:p.Phe4785Ser