Canonical Allele Identifier: CA394563997

Gene: CREBBP

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.4421G>C MANE Select	ENSP00000262367.5:p.Cys1474Ser
ENST00000262367.9:c.4421G>C	ENSP00000262367.5:p.Cys1474Ser
ENST00000382070.7:c.4307G>C	ENSP00000371502.3:p.Cys1436Ser
ENST00000570939.2:c.3056G>C	ENSP00000461002.2:p.Cys1019Ser
ENST00000571763.5:n.211G>C
ENST00000574740.1:n.242G>C
ENST00000576720.1:n.3244G>C
NM_001079846.1:c.4307G>C	NP_001073315.1:p.Cys1436Ser
NM_004380.2:c.4421G>C	NP_004371.2:p.Cys1474Ser
XM_005255124.3:c.4376G>C	XP_005255181.1:p.Cys1459Ser
XM_005255125.3:c.4004G>C	XP_005255182.1:p.Cys1335Ser
XM_006720848.2:c.4160G>C	XP_006720911.1:p.Cys1387Ser
XM_011522380.1:c.4367G>C	XP_011520682.1:p.Cys1456Ser
XM_011522381.1:c.3668G>C	XP_011520683.1:p.Cys1223Ser
XM_005255124.4:c.4376G>C	XP_005255181.1:p.Cys1459Ser
XM_005255125.4:c.4004G>C	XP_005255182.1:p.Cys1335Ser
XM_006720848.3:c.4160G>C	XP_006720911.1:p.Cys1387Ser
XM_011522381.2:c.3668G>C	XP_011520683.1:p.Cys1223Ser
XM_017022944.1:c.4415G>C	XP_016878433.1:p.Cys1472Ser
NM_004380.3:c.4421G>C MANE Select	NP_004371.2:p.Cys1474Ser