Canonical Allele Identifier: CA188999567

Gene: RCL1

Linked Data

• dbSNP Id: rs1015549705
• gnomAD v2: 9-4856783-T-C
• gnomAD v3: 9-4856783-T-C
• gnomAD v4: 9-4856783-T-C
• MyVariant Identifiers: chr9:g.4856783T>C (hg19) ; chr9:g.4856783T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.4856783T>C , CM000671.2:g.4856783T>C	GRCh38
NC_000009.11:g.4856783T>C , CM000671.1:g.4856783T>C	GRCh37
NC_000009.10:g.4846783T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000381750.9:c.972-3342T>C MANE Select	ENSP00000371169.4:n.972-3342T>C
ENST00000381728.5:c.414-3342T>C	ENSP00000371147.1:n.414-3342T>C
ENST00000381730.5:c.414-3342T>C	ENSP00000371149.1:n.414-3342T>C
ENST00000381750.8:c.972-3342T>C	ENSP00000371169.4:n.972-3342T>C
ENST00000442869.5:c.498-3342T>C	ENSP00000412000.2:n.498-3342T>C
ENST00000448872.6:c.414-3342T>C	ENSP00000388096.2:n.414-3342T>C
NM_001286699.1:c.498-3342T>C	NP_001273628.1:n.498-3342T>C
NM_001286700.1:c.498-3342T>C	NP_001273629.1:n.498-3342T>C
NM_001286701.1:c.414-3342T>C	NP_001273630.1:n.414-3342T>C
NM_005772.4:c.972-3342T>C	NP_005763.3:n.972-3342T>C
XM_006716715.2:c.648-3342T>C	XP_006716778.1:n.648-3342T>C
XM_011517673.1:c.414-3342T>C	XP_011515975.1:n.414-3342T>C
XM_006716715.3:c.648-3342T>C	XP_006716778.1:n.648-3342T>C
XM_011517673.3:c.414-3342T>C	XP_011515975.1:n.414-3342T>C
XM_017014176.1:c.414-3342T>C	XP_016869665.1:n.414-3342T>C
NM_005772.5:c.972-3342T>C MANE Select	NP_005763.3:n.972-3342T>C
NM_001286699.2:c.498-3342T>C	NP_001273628.1:n.498-3342T>C
NM_001286700.2:c.498-3342T>C	NP_001273629.1:n.498-3342T>C
NM_001286701.2:c.414-3342T>C	NP_001273630.1:n.414-3342T>C