Canonical Allele Identifier: CA394554239

Gene: CREBBP

Linked Data

• dbSNP Id: rs2141232451
• gnomAD v4: 16-3778013-G-A
• MyVariant Identifiers: chr16:g.3828014G>A (hg19) ; chr16:g.3778013G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3778013G>A , CM000678.2:g.3778013G>A	GRCh38
NC_000016.9:g.3828014G>A , CM000678.1:g.3828014G>A	GRCh37
NC_000016.8:g.3768015G>A	NCBI36
NG_009873.1:g.107108C>T
NG_009873.2:g.107701C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.2111C>T MANE Select	ENSP00000262367.5:p.Pro704Leu
ENST00000262367.9:c.2111C>T	ENSP00000262367.5:p.Pro704Leu
ENST00000382070.7:c.1997C>T	ENSP00000371502.3:p.Pro666Leu
ENST00000570939.2:c.716C>T	ENSP00000461002.2:p.Pro239Leu
ENST00000571826.5:c.160C>T
ENST00000572134.1:c.424C>T
ENST00000634839.1:n.273C>T
NM_001079846.1:c.1997C>T	NP_001073315.1:p.Pro666Leu
NM_004380.2:c.2111C>T	NP_004371.2:p.Pro704Leu
XM_005255124.3:c.2111C>T	XP_005255181.1:p.Pro704Leu
XM_005255125.3:c.2111C>T	XP_005255182.1:p.Pro704Leu
XM_006720848.2:c.2111C>T	XP_006720911.1:p.Pro704Leu
XM_011522380.1:c.2057C>T	XP_011520682.1:p.Pro686Leu
XM_011522381.1:c.1358C>T	XP_011520683.1:p.Pro453Leu
XM_011522382.1:c.2111C>T	XP_011520684.1:p.Pro704Leu
XM_005255124.4:c.2111C>T	XP_005255181.1:p.Pro704Leu
XM_005255125.4:c.2111C>T	XP_005255182.1:p.Pro704Leu
XM_006720848.3:c.2111C>T	XP_006720911.1:p.Pro704Leu
XM_011522381.2:c.1358C>T	XP_011520683.1:p.Pro453Leu
XM_011522382.3:c.2111C>T	XP_011520684.1:p.Pro704Leu
XM_017022944.1:c.2111C>T	XP_016878433.1:p.Pro704Leu
NM_004380.3:c.2111C>T MANE Select	NP_004371.2:p.Pro704Leu