Canonical Allele Identifier: CA7967425

Gene: RBBP6

Linked Data

• dbSNP Id: rs7195386
• ExAC: 16:24578458 T / C
• gnomAD v2: 16-24578458-T-C
• gnomAD v3: 16-24567137-T-C
• gnomAD v4: 16-24567137-T-C
• MyVariant Identifiers: chr16:g.24578458T>C (hg19) ; chr16:g.24567137T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.24567137T>C , CM000678.2:g.24567137T>C	GRCh38
NC_000016.9:g.24578458T>C , CM000678.1:g.24578458T>C	GRCh37
NC_000016.8:g.24485959T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000319715.10:c.1590-6T>C MANE Select	ENSP00000317872.4:n.1590-6T>C
ENST00000646282.1:c.1704-6T>C	ENSP00000496720.1:n.1704-6T>C
ENST00000319715.8:c.1590-6T>C	ENSP00000317872.4:n.1590-6T>C
ENST00000348022.6:c.1590-6T>C	ENSP00000316291.4:n.1590-6T>C
ENST00000381039.7:c.1290-3739T>C	ENSP00000370427.3:n.1290-3739T>C
ENST00000562430.5:n.2380-6T>C
ENST00000564314.5:c.1191-6T>C	ENSP00000456750.1:n.1191-6T>C
ENST00000570185.1:n.278-6T>C
NM_006910.4:c.1590-6T>C	NP_008841.2:n.1590-6T>C
NM_018703.3:c.1590-6T>C	NP_061173.1:n.1590-6T>C
XM_005255461.2:c.1704-6T>C	XP_005255518.1:n.1704-6T>C
XM_005255462.2:c.1704-6T>C	XP_005255519.1:n.1704-6T>C
NM_006910.5:c.1590-6T>C MANE Select	NP_008841.2:n.1590-6T>C
NM_018703.4:c.1590-6T>C	NP_061173.1:n.1590-6T>C