Canonical Allele Identifier: CA394554814

Gene: CREBBP

Linked Data

• dbSNP Id: rs2053190428
• MyVariant Identifiers: chr16:g.3828148G>C (hg19) ; chr16:g.3778147G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3778147G>C , CM000678.2:g.3778147G>C	GRCh38
NC_000016.9:g.3828148G>C , CM000678.1:g.3828148G>C	GRCh37
NC_000016.8:g.3768149G>C	NCBI36
NG_009873.1:g.106974C>G
NG_009873.2:g.107567C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.1977C>G MANE Select	ENSP00000262367.5:p.Tyr659Ter
ENST00000262367.9:c.1977C>G	ENSP00000262367.5:p.Tyr659Ter
ENST00000382070.7:c.1863C>G	ENSP00000371502.3:p.Tyr621Ter
ENST00000570939.2:c.582C>G	ENSP00000461002.2:p.Tyr194Ter
ENST00000571826.5:c.26C>G
ENST00000572134.1:c.290C>G
ENST00000634839.1:n.139C>G
NM_001079846.1:c.1863C>G	NP_001073315.1:p.Tyr621Ter
NM_004380.2:c.1977C>G	NP_004371.2:p.Tyr659Ter
XM_005255124.3:c.1977C>G	XP_005255181.1:p.Tyr659Ter
XM_005255125.3:c.1977C>G	XP_005255182.1:p.Tyr659Ter
XM_006720848.2:c.1977C>G	XP_006720911.1:p.Tyr659Ter
XM_011522380.1:c.1923C>G	XP_011520682.1:p.Tyr641Ter
XM_011522381.1:c.1224C>G	XP_011520683.1:p.Tyr408Ter
XM_011522382.1:c.1977C>G	XP_011520684.1:p.Tyr659Ter
XM_005255124.4:c.1977C>G	XP_005255181.1:p.Tyr659Ter
XM_005255125.4:c.1977C>G	XP_005255182.1:p.Tyr659Ter
XM_006720848.3:c.1977C>G	XP_006720911.1:p.Tyr659Ter
XM_011522381.2:c.1224C>G	XP_011520683.1:p.Tyr408Ter
XM_011522382.3:c.1977C>G	XP_011520684.1:p.Tyr659Ter
XM_017022944.1:c.1977C>G	XP_016878433.1:p.Tyr659Ter
NM_004380.3:c.1977C>G MANE Select	NP_004371.2:p.Tyr659Ter