Canonical Allele Identifier: CA7868960

Gene: CREBBP

Linked Data

• ClinVar Variation Id: 1305684
• ClinVar RCV Id: RCV001768891 ; RCV004040120
• dbSNP Id: rs753595183
• ExAC: 16:3778017 C / T
• gnomAD v2: 16-3778017-C-T
• gnomAD v3: 16-3728016-C-T
• gnomAD v4: 16-3728016-C-T
• MyVariant Identifiers: chr16:g.3778017C>T (hg19) ; chr16:g.3728016C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3728016C>T , CM000678.2:g.3728016C>T	GRCh38
NC_000016.9:g.3778017C>T , CM000678.1:g.3778017C>T	GRCh37
NC_000016.8:g.3718018C>T	NCBI36
NG_009873.1:g.157105G>A
NG_009873.2:g.157698G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.7031G>A MANE Select	ENSP00000262367.5:p.Arg2344Gln
ENST00000262367.9:c.7031G>A	ENSP00000262367.5:p.Arg2344Gln
ENST00000382070.7:c.6917G>A	ENSP00000371502.3:p.Arg2306Gln
NM_001079846.1:c.6917G>A	NP_001073315.1:p.Arg2306Gln
NM_004380.2:c.7031G>A	NP_004371.2:p.Arg2344Gln
XM_005255124.3:c.6986G>A	XP_005255181.1:p.Arg2329Gln
XM_005255125.3:c.6614G>A	XP_005255182.1:p.Arg2205Gln
XM_006720848.2:c.6770G>A	XP_006720911.1:p.Arg2257Gln
XM_011522380.1:c.6977G>A	XP_011520682.1:p.Arg2326Gln
XM_011522381.1:c.6278G>A	XP_011520683.1:p.Arg2093Gln
XM_005255124.4:c.6986G>A	XP_005255181.1:p.Arg2329Gln
XM_005255125.4:c.6614G>A	XP_005255182.1:p.Arg2205Gln
XM_006720848.3:c.6770G>A	XP_006720911.1:p.Arg2257Gln
XM_011522381.2:c.6278G>A	XP_011520683.1:p.Arg2093Gln
XM_017022944.1:c.7025G>A	XP_016878433.1:p.Arg2342Gln
NM_004380.3:c.7031G>A MANE Select	NP_004371.2:p.Arg2344Gln