Canonical Allele Identifier: CA7870501

Gene: CREBBP

Linked Data

• dbSNP Id: rs765395551
• ExAC: 16:3843369 T / G
• gnomAD v2: 16-3843369-T-G
• gnomAD v4: 16-3793368-T-G
• MyVariant Identifiers: chr16:g.3843369T>G (hg19) ; chr16:g.3793368T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3793368T>G , CM000678.2:g.3793368T>G	GRCh38
NC_000016.9:g.3843369T>G , CM000678.1:g.3843369T>G	GRCh37
NC_000016.8:g.3783370T>G	NCBI36
NG_009873.1:g.91753A>C
NG_009873.2:g.92346A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000262367.10:c.1216+18A>C MANE Select	ENSP00000262367.5:n.1216+18A>C
ENST00000262367.9:c.1216+18A>C	ENSP00000262367.5:n.1216+18A>C
ENST00000382070.7:c.1216+18A>C	ENSP00000371502.3:n.1216+18A>C
NM_001079846.1:c.1216+18A>C	NP_001073315.1:n.1216+18A>C
NM_004380.2:c.1216+18A>C	NP_004371.2:n.1216+18A>C
XM_005255124.3:c.1216+18A>C	XP_005255181.1:n.1216+18A>C
XM_005255125.3:c.1216+18A>C	XP_005255182.1:n.1216+18A>C
XM_006720848.2:c.1216+18A>C	XP_006720911.1:n.1216+18A>C
XM_011522380.1:c.1162+18A>C	XP_011520682.1:n.1162+18A>C
XM_011522381.1:c.463+18A>C	XP_011520683.1:n.463+18A>C
XM_011522382.1:c.1216+18A>C	XP_011520684.1:n.1216+18A>C
XM_005255124.4:c.1216+18A>C	XP_005255181.1:n.1216+18A>C
XM_005255125.4:c.1216+18A>C	XP_005255182.1:n.1216+18A>C
XM_006720848.3:c.1216+18A>C	XP_006720911.1:n.1216+18A>C
XM_011522381.2:c.463+18A>C	XP_011520683.1:n.463+18A>C
XM_011522382.3:c.1216+18A>C	XP_011520684.1:n.1216+18A>C
XM_017022944.1:c.1216+18A>C	XP_016878433.1:n.1216+18A>C
NM_004380.3:c.1216+18A>C MANE Select	NP_004371.2:n.1216+18A>C