Canonical Allele Identifier: CA865043053

Gene: RCL1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.4834394A>T , CM000671.2:g.4834394A>T	GRCh38
NC_000009.11:g.4834394A>T , CM000671.1:g.4834394A>T	GRCh37
NC_000009.10:g.4824394A>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381750.9:c.584+129A>T MANE Select	ENSP00000371169.4:n.584+129A>T
ENST00000381750.8:c.584+129A>T	ENSP00000371169.4:n.584+129A>T
ENST00000442869.5:c.110+129A>T	ENSP00000412000.2:n.110+129A>T
ENST00000473230.1:n.288+1166A>T
NM_001286699.1:c.110+129A>T	NP_001273628.1:n.110+129A>T
NM_001286700.1:c.110+129A>T	NP_001273629.1:n.110+129A>T
NM_005772.4:c.584+129A>T	NP_005763.3:n.584+129A>T
XM_006716715.2:c.260+129A>T	XP_006716778.1:n.260+129A>T
XM_006716715.3:c.260+129A>T	XP_006716778.1:n.260+129A>T
NM_005772.5:c.584+129A>T MANE Select	NP_005763.3:n.584+129A>T
NM_001286699.2:c.110+129A>T	NP_001273628.1:n.110+129A>T
NM_001286700.2:c.110+129A>T	NP_001273629.1:n.110+129A>T