Canonical Allele Identifier: CA394550515

Gene: CREBBP

Linked Data

• dbSNP Id: rs2151299203
• MyVariant Identifiers: chr16:g.3777939T>A (hg19) ; chr16:g.3727938T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3727938T>A , CM000678.2:g.3727938T>A	GRCh38
NC_000016.9:g.3777939T>A , CM000678.1:g.3777939T>A	GRCh37
NC_000016.8:g.3717940T>A	NCBI36
NG_009873.1:g.157183A>T
NG_009873.2:g.157776A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.7109A>T MANE Select	ENSP00000262367.5:p.Gln2370Leu
ENST00000262367.9:c.7109A>T	ENSP00000262367.5:p.Gln2370Leu
ENST00000382070.7:c.6995A>T	ENSP00000371502.3:p.Gln2332Leu
NM_001079846.1:c.6995A>T	NP_001073315.1:p.Gln2332Leu
NM_004380.2:c.7109A>T	NP_004371.2:p.Gln2370Leu
XM_005255124.3:c.7064A>T	XP_005255181.1:p.Gln2355Leu
XM_005255125.3:c.6692A>T	XP_005255182.1:p.Gln2231Leu
XM_006720848.2:c.6848A>T	XP_006720911.1:p.Gln2283Leu
XM_011522380.1:c.7055A>T	XP_011520682.1:p.Gln2352Leu
XM_011522381.1:c.6356A>T	XP_011520683.1:p.Gln2119Leu
XM_005255124.4:c.7064A>T	XP_005255181.1:p.Gln2355Leu
XM_005255125.4:c.6692A>T	XP_005255182.1:p.Gln2231Leu
XM_006720848.3:c.6848A>T	XP_006720911.1:p.Gln2283Leu
XM_011522381.2:c.6356A>T	XP_011520683.1:p.Gln2119Leu
XM_017022944.1:c.7103A>T	XP_016878433.1:p.Gln2368Leu
NM_004380.3:c.7109A>T MANE Select	NP_004371.2:p.Gln2370Leu