Canonical Allele Identifier: CA394556137

Gene: CREBBP

Linked Data

• dbSNP Id: rs2151310226
• MyVariant Identifiers: chr16:g.3779532G>A (hg19) ; chr16:g.3729531G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3729531G>A , CM000678.2:g.3729531G>A	GRCh38
NC_000016.9:g.3779532G>A , CM000678.1:g.3779532G>A	GRCh37
NC_000016.8:g.3719533G>A	NCBI36
NG_009873.1:g.155590C>T
NG_009873.2:g.156183C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.5516C>T MANE Select	ENSP00000262367.5:p.Pro1839Leu
ENST00000262367.9:c.5516C>T	ENSP00000262367.5:p.Pro1839Leu
ENST00000382070.7:c.5402C>T	ENSP00000371502.3:p.Pro1801Leu
NM_001079846.1:c.5402C>T	NP_001073315.1:p.Pro1801Leu
NM_004380.2:c.5516C>T	NP_004371.2:p.Pro1839Leu
XM_005255124.3:c.5471C>T	XP_005255181.1:p.Pro1824Leu
XM_005255125.3:c.5099C>T	XP_005255182.1:p.Pro1700Leu
XM_006720848.2:c.5255C>T	XP_006720911.1:p.Pro1752Leu
XM_011522380.1:c.5462C>T	XP_011520682.1:p.Pro1821Leu
XM_011522381.1:c.4763C>T	XP_011520683.1:p.Pro1588Leu
XM_005255124.4:c.5471C>T	XP_005255181.1:p.Pro1824Leu
XM_005255125.4:c.5099C>T	XP_005255182.1:p.Pro1700Leu
XM_006720848.3:c.5255C>T	XP_006720911.1:p.Pro1752Leu
XM_011522381.2:c.4763C>T	XP_011520683.1:p.Pro1588Leu
XM_017022944.1:c.5510C>T	XP_016878433.1:p.Pro1837Leu
NM_004380.3:c.5516C>T MANE Select	NP_004371.2:p.Pro1839Leu