Canonical Allele Identifier: CA394550643

Gene: CREBBP

Linked Data

• dbSNP Id: rs2151299529
• MyVariant Identifiers: chr16:g.3777987G>A (hg19) ; chr16:g.3727986G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3727986G>A , CM000678.2:g.3727986G>A	GRCh38
NC_000016.9:g.3777987G>A , CM000678.1:g.3777987G>A	GRCh37
NC_000016.8:g.3717988G>A	NCBI36
NG_009873.1:g.157135C>T
NG_009873.2:g.157728C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.7061C>T MANE Select	ENSP00000262367.5:p.Pro2354Leu
ENST00000262367.9:c.7061C>T	ENSP00000262367.5:p.Pro2354Leu
ENST00000382070.7:c.6947C>T	ENSP00000371502.3:p.Pro2316Leu
NM_001079846.1:c.6947C>T	NP_001073315.1:p.Pro2316Leu
NM_004380.2:c.7061C>T	NP_004371.2:p.Pro2354Leu
XM_005255124.3:c.7016C>T	XP_005255181.1:p.Pro2339Leu
XM_005255125.3:c.6644C>T	XP_005255182.1:p.Pro2215Leu
XM_006720848.2:c.6800C>T	XP_006720911.1:p.Pro2267Leu
XM_011522380.1:c.7007C>T	XP_011520682.1:p.Pro2336Leu
XM_011522381.1:c.6308C>T	XP_011520683.1:p.Pro2103Leu
XM_005255124.4:c.7016C>T	XP_005255181.1:p.Pro2339Leu
XM_005255125.4:c.6644C>T	XP_005255182.1:p.Pro2215Leu
XM_006720848.3:c.6800C>T	XP_006720911.1:p.Pro2267Leu
XM_011522381.2:c.6308C>T	XP_011520683.1:p.Pro2103Leu
XM_017022944.1:c.7055C>T	XP_016878433.1:p.Pro2352Leu
NM_004380.3:c.7061C>T MANE Select	NP_004371.2:p.Pro2354Leu