Canonical Allele Identifier: CA394563977

Gene: CREBBP

Linked Data

• dbSNP Id: rs2151329941
• MyVariant Identifiers: chr16:g.3786781C>G (hg19) ; chr16:g.3736780C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3736780C>G , CM000678.2:g.3736780C>G	GRCh38
NC_000016.9:g.3786781C>G , CM000678.1:g.3786781C>G	GRCh37
NC_000016.8:g.3726782C>G	NCBI36
NG_009873.1:g.148341G>C
NG_009873.2:g.148934G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.4430G>C MANE Select	ENSP00000262367.5:p.Ser1477Thr
ENST00000262367.9:c.4430G>C	ENSP00000262367.5:p.Ser1477Thr
ENST00000382070.7:c.4316G>C	ENSP00000371502.3:p.Ser1439Thr
ENST00000570939.2:c.3065G>C	ENSP00000461002.2:p.Ser1022Thr
ENST00000571763.5:n.220G>C
ENST00000574740.1:n.251G>C
ENST00000576720.1:n.3253G>C
NM_001079846.1:c.4316G>C	NP_001073315.1:p.Ser1439Thr
NM_004380.2:c.4430G>C	NP_004371.2:p.Ser1477Thr
XM_005255124.3:c.4385G>C	XP_005255181.1:p.Ser1462Thr
XM_005255125.3:c.4013G>C	XP_005255182.1:p.Ser1338Thr
XM_006720848.2:c.4169G>C	XP_006720911.1:p.Ser1390Thr
XM_011522380.1:c.4376G>C	XP_011520682.1:p.Ser1459Thr
XM_011522381.1:c.3677G>C	XP_011520683.1:p.Ser1226Thr
XM_005255124.4:c.4385G>C	XP_005255181.1:p.Ser1462Thr
XM_005255125.4:c.4013G>C	XP_005255182.1:p.Ser1338Thr
XM_006720848.3:c.4169G>C	XP_006720911.1:p.Ser1390Thr
XM_011522381.2:c.3677G>C	XP_011520683.1:p.Ser1226Thr
XM_017022944.1:c.4424G>C	XP_016878433.1:p.Ser1475Thr
NM_004380.3:c.4430G>C MANE Select	NP_004371.2:p.Ser1477Thr