Canonical Allele Identifier: CA394551092

Gene: CREBBP

Linked Data

• dbSNP Id: rs2151300268
• MyVariant Identifiers: chr16:g.3778097C>A (hg19) ; chr16:g.3728096C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3728096C>A , CM000678.2:g.3728096C>A	GRCh38
NC_000016.9:g.3778097C>A , CM000678.1:g.3778097C>A	GRCh37
NC_000016.8:g.3718098C>A	NCBI36
NG_009873.1:g.157025G>T
NG_009873.2:g.157618G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.6951G>T MANE Select	ENSP00000262367.5:p.Gln2317His
ENST00000262367.9:c.6951G>T	ENSP00000262367.5:p.Gln2317His
ENST00000382070.7:c.6837G>T	ENSP00000371502.3:p.Gln2279His
NM_001079846.1:c.6837G>T	NP_001073315.1:p.Gln2279His
NM_004380.2:c.6951G>T	NP_004371.2:p.Gln2317His
XM_005255124.3:c.6906G>T	XP_005255181.1:p.Gln2302His
XM_005255125.3:c.6534G>T	XP_005255182.1:p.Gln2178His
XM_006720848.2:c.6690G>T	XP_006720911.1:p.Gln2230His
XM_011522380.1:c.6897G>T	XP_011520682.1:p.Gln2299His
XM_011522381.1:c.6198G>T	XP_011520683.1:p.Gln2066His
XM_005255124.4:c.6906G>T	XP_005255181.1:p.Gln2302His
XM_005255125.4:c.6534G>T	XP_005255182.1:p.Gln2178His
XM_006720848.3:c.6690G>T	XP_006720911.1:p.Gln2230His
XM_011522381.2:c.6198G>T	XP_011520683.1:p.Gln2066His
XM_017022944.1:c.6945G>T	XP_016878433.1:p.Gln2315His
NM_004380.3:c.6951G>T MANE Select	NP_004371.2:p.Gln2317His