Canonical Allele Identifier: CA394563791

Gene: CREBBP

Linked Data

• dbSNP Id: rs2151329710
• gnomAD v4: 16-3736744-G-A
• MyVariant Identifiers: chr16:g.3786745G>A (hg19) ; chr16:g.3736744G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3736744G>A , CM000678.2:g.3736744G>A	GRCh38
NC_000016.9:g.3786745G>A , CM000678.1:g.3786745G>A	GRCh37
NC_000016.8:g.3726746G>A	NCBI36
NG_009873.1:g.148377C>T
NG_009873.2:g.148970C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.4466C>T MANE Select	ENSP00000262367.5:p.Pro1489Leu
ENST00000262367.9:c.4466C>T	ENSP00000262367.5:p.Pro1489Leu
ENST00000382070.7:c.4352C>T	ENSP00000371502.3:p.Pro1451Leu
ENST00000570939.2:c.3101C>T	ENSP00000461002.2:p.Pro1034Leu
ENST00000571763.5:n.256C>T
ENST00000574740.1:n.287C>T
ENST00000576720.1:n.3289C>T
NM_001079846.1:c.4352C>T	NP_001073315.1:p.Pro1451Leu
NM_004380.2:c.4466C>T	NP_004371.2:p.Pro1489Leu
XM_005255124.3:c.4421C>T	XP_005255181.1:p.Pro1474Leu
XM_005255125.3:c.4049C>T	XP_005255182.1:p.Pro1350Leu
XM_006720848.2:c.4205C>T	XP_006720911.1:p.Pro1402Leu
XM_011522380.1:c.4412C>T	XP_011520682.1:p.Pro1471Leu
XM_011522381.1:c.3713C>T	XP_011520683.1:p.Pro1238Leu
XM_005255124.4:c.4421C>T	XP_005255181.1:p.Pro1474Leu
XM_005255125.4:c.4049C>T	XP_005255182.1:p.Pro1350Leu
XM_006720848.3:c.4205C>T	XP_006720911.1:p.Pro1402Leu
XM_011522381.2:c.3713C>T	XP_011520683.1:p.Pro1238Leu
XM_017022944.1:c.4460C>T	XP_016878433.1:p.Pro1487Leu
NM_004380.3:c.4466C>T MANE Select	NP_004371.2:p.Pro1489Leu