Canonical Allele Identifier: CA8461800

Gene: RSKR SPAG5-AS1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.28611407G>T , CM000679.2:g.28611407G>T	GRCh38
NC_000017.10:g.26938425G>T , CM000679.1:g.26938425G>T	GRCh37
NC_000017.9:g.23962552G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_001174103.2:c.886C>A (RSKR) MANE Select	NP_001167574.1:p.Leu296Met
ENST00000301037.11:c.886C>A (RSKR) MANE Select	ENSP00000301037.5:p.Leu296Met
NM_001174103.1:c.886C>A (RSKR)	NP_001167574.1:p.Leu296Met
NR_040012.1:n.273-4878G>T (SPAG5-AS1)
ENST00000301037.9:c.886C>A (RSKR)	ENSP00000301037.4:p.Leu296Met
ENST00000481916.6:c.*30+361C>A	ENSP00000436369.2:n.*30+361C>A
ENST00000494272.6:c.424C>A (RSKR)
ENST00000531839.5:c.524+1624C>A	ENSP00000431165.1:n.524+1624C>A
ENST00000577790.1:c.321+2033C>A	ENSP00000462934.1:n.321+2033C>A
ENST00000577790.2:c.474+1671C>A (RSKR)	ENSP00000462934.2:n.474+1671C>A
ENST00000578956.5:c.94C>A (RSKR)	ENSP00000463890.1:p.Leu32Met
ENST00000584196.1:c.*30+361C>A	ENSP00000464466.1:n.*30+361C>A