Canonical Allele Identifier: CA394554487

Gene: CREBBP

Linked Data

• dbSNP Id: rs2141233404
• MyVariant Identifiers: chr16:g.3828077G>T (hg19) ; chr16:g.3778076G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3778076G>T , CM000678.2:g.3778076G>T	GRCh38
NC_000016.9:g.3828077G>T , CM000678.1:g.3828077G>T	GRCh37
NC_000016.8:g.3768078G>T	NCBI36
NG_009873.1:g.107045C>A
NG_009873.2:g.107638C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.2048C>A MANE Select	ENSP00000262367.5:p.Pro683Gln
ENST00000262367.9:c.2048C>A	ENSP00000262367.5:p.Pro683Gln
ENST00000382070.7:c.1934C>A	ENSP00000371502.3:p.Pro645Gln
ENST00000570939.2:c.653C>A	ENSP00000461002.2:p.Pro218Gln
ENST00000571826.5:c.97C>A
ENST00000572134.1:c.361C>A
ENST00000634839.1:n.210C>A
NM_001079846.1:c.1934C>A	NP_001073315.1:p.Pro645Gln
NM_004380.2:c.2048C>A	NP_004371.2:p.Pro683Gln
XM_005255124.3:c.2048C>A	XP_005255181.1:p.Pro683Gln
XM_005255125.3:c.2048C>A	XP_005255182.1:p.Pro683Gln
XM_006720848.2:c.2048C>A	XP_006720911.1:p.Pro683Gln
XM_011522380.1:c.1994C>A	XP_011520682.1:p.Pro665Gln
XM_011522381.1:c.1295C>A	XP_011520683.1:p.Pro432Gln
XM_011522382.1:c.2048C>A	XP_011520684.1:p.Pro683Gln
XM_005255124.4:c.2048C>A	XP_005255181.1:p.Pro683Gln
XM_005255125.4:c.2048C>A	XP_005255182.1:p.Pro683Gln
XM_006720848.3:c.2048C>A	XP_006720911.1:p.Pro683Gln
XM_011522381.2:c.1295C>A	XP_011520683.1:p.Pro432Gln
XM_011522382.3:c.2048C>A	XP_011520684.1:p.Pro683Gln
XM_017022944.1:c.2048C>A	XP_016878433.1:p.Pro683Gln
NM_004380.3:c.2048C>A MANE Select	NP_004371.2:p.Pro683Gln