Canonical Allele Identifier: CA493279225

Gene: CREBBP

Linked Data

• dbSNP Id: rs1163138726
• gnomAD v2: 16-3786690-C-T
• gnomAD v4: 16-3736689-C-T
• MyVariant Identifiers: chr16:g.3786690C>T (hg19) ; chr16:g.3736689C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3736689C>T , CM000678.2:g.3736689C>T	GRCh38
NC_000016.9:g.3786690C>T , CM000678.1:g.3786690C>T	GRCh37
NC_000016.8:g.3726691C>T	NCBI36
NG_009873.1:g.148432G>A
NG_009873.2:g.149025G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.4521G>A MANE Select	ENSP00000262367.5:p.Leu1507=
ENST00000262367.9:c.4521G>A	ENSP00000262367.5:p.Leu1507=
ENST00000382070.7:c.4407G>A	ENSP00000371502.3:p.Leu1469=
ENST00000570939.2:c.3156G>A	ENSP00000461002.2:p.Leu1052=
ENST00000571763.5:n.311G>A
ENST00000574740.1:n.342G>A
ENST00000576720.1:n.3344G>A
NM_001079846.1:c.4407G>A	NP_001073315.1:p.Leu1469=
NM_004380.2:c.4521G>A	NP_004371.2:p.Leu1507=
XM_005255124.3:c.4476G>A	XP_005255181.1:p.Leu1492=
XM_005255125.3:c.4104G>A	XP_005255182.1:p.Leu1368=
XM_006720848.2:c.4260G>A	XP_006720911.1:p.Leu1420=
XM_011522380.1:c.4467G>A	XP_011520682.1:p.Leu1489=
XM_011522381.1:c.3768G>A	XP_011520683.1:p.Leu1256=
XM_005255124.4:c.4476G>A	XP_005255181.1:p.Leu1492=
XM_005255125.4:c.4104G>A	XP_005255182.1:p.Leu1368=
XM_006720848.3:c.4260G>A	XP_006720911.1:p.Leu1420=
XM_011522381.2:c.3768G>A	XP_011520683.1:p.Leu1256=
XM_017022944.1:c.4515G>A	XP_016878433.1:p.Leu1505=
NM_004380.3:c.4521G>A MANE Select	NP_004371.2:p.Leu1507=