Canonical Allele Identifier: CA394551737

Gene: CREBBP

Linked Data

• dbSNP Id: rs1247383237
• MyVariant Identifiers: chr16:g.3820909C>A (hg19) ; chr16:g.3770908C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3770908C>A , CM000678.2:g.3770908C>A	GRCh38
NC_000016.9:g.3820909C>A , CM000678.1:g.3820909C>A	GRCh37
NC_000016.8:g.3760910C>A	NCBI36
NG_009873.1:g.114213G>T
NG_009873.2:g.114806G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.2542G>T MANE Select	ENSP00000262367.5:p.Val848Leu
ENST00000262367.9:c.2542G>T	ENSP00000262367.5:p.Val848Leu
ENST00000382070.7:c.2428G>T	ENSP00000371502.3:p.Val810Leu
ENST00000570939.2:c.1147G>T	ENSP00000461002.2:p.Val383Leu
NM_001079846.1:c.2428G>T	NP_001073315.1:p.Val810Leu
NM_004380.2:c.2542G>T	NP_004371.2:p.Val848Leu
XM_005255124.3:c.2497G>T	XP_005255181.1:p.Val833Leu
XM_005255125.3:c.2464-1555G>T	XP_005255182.1:n.2464-1555G>T
XM_006720848.2:c.2542G>T	XP_006720911.1:p.Val848Leu
XM_011522380.1:c.2488G>T	XP_011520682.1:p.Val830Leu
XM_011522381.1:c.1789G>T	XP_011520683.1:p.Val597Leu
XM_011522382.1:c.2542G>T	XP_011520684.1:p.Val848Leu
XM_005255124.4:c.2497G>T	XP_005255181.1:p.Val833Leu
XM_005255125.4:c.2464-1555G>T	XP_005255182.1:n.2464-1555G>T
XM_006720848.3:c.2542G>T	XP_006720911.1:p.Val848Leu
XM_011522381.2:c.1789G>T	XP_011520683.1:p.Val597Leu
XM_011522382.3:c.2542G>T	XP_011520684.1:p.Val848Leu
XM_017022944.1:c.2536G>T	XP_016878433.1:p.Val846Leu
NM_004380.3:c.2542G>T MANE Select	NP_004371.2:p.Val848Leu