Canonical Allele Identifier: CA138333287

Gene: RSPH9 POLR1C

Linked Data

• dbSNP Id: rs944591850
• COSMIC: COSM6354106 ; COSM6354107
• MyVariant Identifiers: chr6:g.43618230C>T (hg19) ; chr6:g.43650493C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.43650493C>T , CM000668.2:g.43650493C>T	GRCh38
NC_000006.11:g.43618230C>T , CM000668.1:g.43618230C>T	GRCh37
NC_000006.10:g.43726208C>T	NCBI36
NG_023436.1:g.10464C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372163.5:c.346C>T (RSPH9) MANE Select	ENSP00000361236.4:p.Leu116=
ENST00000372163.4:c.346C>T (RSPH9)	ENSP00000361236.4:p.Leu116=
ENST00000372165.8:c.346C>T (RSPH9)	ENSP00000361238.4:p.Leu116=
NM_001193341.1:c.346C>T (RSPH9)	NP_001180270.1:p.Leu116=
NM_152732.4:c.346C>T (RSPH9)	NP_689945.2:p.Leu116=
XM_005248901.2:c.346C>T (RSPH9)	XP_005248958.1:p.Leu116=
XM_006715014.1:c.228-5069C>T (RSPH9)	XP_006715077.1:n.228-5069C>T
XM_011514356.1:c.346C>T (RSPH9)	XP_011512658.1:p.Leu116=
XR_926099.1:n.381C>T (RSPH9)
XM_005248901.3:c.346C>T (RSPH9)	XP_005248958.1:p.Leu116=
XR_002956268.1:n.388C>T (RSPH9)
XR_002956269.1:n.297-5069C>T (RSPH9)
XR_926099.2:n.388C>T (RSPH9)
NM_152732.5:c.346C>T (RSPH9) MANE Select	NP_689945.2:p.Leu116=
NM_001193341.2:c.346C>T (RSPH9)	NP_001180270.1:p.Leu116=
NM_001318876.2:c.945+121222C>T (POLR1C)	NP_001305805.1:n.945+121222C>T