Canonical Allele Identifier: CA276972892

Gene: CREBBP

Linked Data

• ClinVar Variation Id: 1267372
• ClinVar RCV Id: RCV001677397
• dbSNP Id: rs12051375
• gnomAD v2: 16-3827553-G-A
• gnomAD v3: 16-3777552-G-A
• gnomAD v4: 16-3777552-G-A
• MyVariant Identifiers: chr16:g.3827553G>A (hg19) ; chr16:g.3777552G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3777552G>A , CM000678.2:g.3777552G>A	GRCh38
NC_000016.9:g.3827553G>A , CM000678.1:g.3827553G>A	GRCh37
NC_000016.8:g.3767554G>A	NCBI36
NG_009873.1:g.107569C>T
NG_009873.2:g.108162C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000262367.10:c.2158+61C>T MANE Select	ENSP00000262367.5:n.2158+61C>T
ENST00000262367.9:c.2158+61C>T	ENSP00000262367.5:n.2158+61C>T
ENST00000382070.7:c.2044+61C>T	ENSP00000371502.3:n.2044+61C>T
ENST00000570939.2:c.763+61C>T	ENSP00000461002.2:n.763+61C>T
ENST00000571826.5:c.207+61C>T
ENST00000572134.1:c.426+459C>T
NM_001079846.1:c.2044+61C>T	NP_001073315.1:n.2044+61C>T
NM_004380.2:c.2158+61C>T	NP_004371.2:n.2158+61C>T
XM_005255124.3:c.2113+459C>T	XP_005255181.1:n.2113+459C>T
XM_005255125.3:c.2158+61C>T	XP_005255182.1:n.2158+61C>T
XM_006720848.2:c.2158+61C>T	XP_006720911.1:n.2158+61C>T
XM_011522380.1:c.2104+61C>T	XP_011520682.1:n.2104+61C>T
XM_011522381.1:c.1405+61C>T	XP_011520683.1:n.1405+61C>T
XM_011522382.1:c.2158+61C>T	XP_011520684.1:n.2158+61C>T
XM_005255124.4:c.2113+459C>T	XP_005255181.1:n.2113+459C>T
XM_005255125.4:c.2158+61C>T	XP_005255182.1:n.2158+61C>T
XM_006720848.3:c.2158+61C>T	XP_006720911.1:n.2158+61C>T
XM_011522381.2:c.1405+61C>T	XP_011520683.1:n.1405+61C>T
XM_011522382.3:c.2158+61C>T	XP_011520684.1:n.2158+61C>T
XM_017022944.1:c.2158+61C>T	XP_016878433.1:n.2158+61C>T
NM_004380.3:c.2158+61C>T MANE Select	NP_004371.2:n.2158+61C>T