Canonical Allele Identifier: CA394563996

Gene: CREBBP

Linked Data

• dbSNP Id: rs886042251
• MyVariant Identifiers: chr16:g.3786790C>A (hg19) ; chr16:g.3736789C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3736789C>A , CM000678.2:g.3736789C>A	GRCh38
NC_000016.9:g.3786790C>A , CM000678.1:g.3786790C>A	GRCh37
NC_000016.8:g.3726791C>A	NCBI36
NG_009873.1:g.148332G>T
NG_009873.2:g.148925G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.4421G>T MANE Select	ENSP00000262367.5:p.Cys1474Phe
ENST00000262367.9:c.4421G>T	ENSP00000262367.5:p.Cys1474Phe
ENST00000382070.7:c.4307G>T	ENSP00000371502.3:p.Cys1436Phe
ENST00000570939.2:c.3056G>T	ENSP00000461002.2:p.Cys1019Phe
ENST00000571763.5:n.211G>T
ENST00000574740.1:n.242G>T
ENST00000576720.1:n.3244G>T
NM_001079846.1:c.4307G>T	NP_001073315.1:p.Cys1436Phe
NM_004380.2:c.4421G>T	NP_004371.2:p.Cys1474Phe
XM_005255124.3:c.4376G>T	XP_005255181.1:p.Cys1459Phe
XM_005255125.3:c.4004G>T	XP_005255182.1:p.Cys1335Phe
XM_006720848.2:c.4160G>T	XP_006720911.1:p.Cys1387Phe
XM_011522380.1:c.4367G>T	XP_011520682.1:p.Cys1456Phe
XM_011522381.1:c.3668G>T	XP_011520683.1:p.Cys1223Phe
XM_005255124.4:c.4376G>T	XP_005255181.1:p.Cys1459Phe
XM_005255125.4:c.4004G>T	XP_005255182.1:p.Cys1335Phe
XM_006720848.3:c.4160G>T	XP_006720911.1:p.Cys1387Phe
XM_011522381.2:c.3668G>T	XP_011520683.1:p.Cys1223Phe
XM_017022944.1:c.4415G>T	XP_016878433.1:p.Cys1472Phe
NM_004380.3:c.4421G>T MANE Select	NP_004371.2:p.Cys1474Phe