Canonical Allele Identifier: CA394564047

Gene: CREBBP

Linked Data

• MyVariant Identifiers: chr16:g.3786813A>C (hg19) ; chr16:g.3736812A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3736812A>C , CM000678.2:g.3736812A>C	GRCh38
NC_000016.9:g.3786813A>C , CM000678.1:g.3786813A>C	GRCh37
NC_000016.8:g.3726814A>C	NCBI36
NG_009873.1:g.148309T>G
NG_009873.2:g.148902T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.4398T>G MANE Select	ENSP00000262367.5:p.Tyr1466Ter
ENST00000262367.9:c.4398T>G	ENSP00000262367.5:p.Tyr1466Ter
ENST00000382070.7:c.4284T>G	ENSP00000371502.3:p.Tyr1428Ter
ENST00000570939.2:c.3033T>G	ENSP00000461002.2:p.Tyr1011Ter
ENST00000571763.5:n.188T>G
ENST00000574740.1:n.219T>G
ENST00000576720.1:n.3221T>G
NM_001079846.1:c.4284T>G	NP_001073315.1:p.Tyr1428Ter
NM_004380.2:c.4398T>G	NP_004371.2:p.Tyr1466Ter
XM_005255124.3:c.4353T>G	XP_005255181.1:p.Tyr1451Ter
XM_005255125.3:c.3981T>G	XP_005255182.1:p.Tyr1327Ter
XM_006720848.2:c.4137T>G	XP_006720911.1:p.Tyr1379Ter
XM_011522380.1:c.4344T>G	XP_011520682.1:p.Tyr1448Ter
XM_011522381.1:c.3645T>G	XP_011520683.1:p.Tyr1215Ter
XM_005255124.4:c.4353T>G	XP_005255181.1:p.Tyr1451Ter
XM_005255125.4:c.3981T>G	XP_005255182.1:p.Tyr1327Ter
XM_006720848.3:c.4137T>G	XP_006720911.1:p.Tyr1379Ter
XM_011522381.2:c.3645T>G	XP_011520683.1:p.Tyr1215Ter
XM_017022944.1:c.4392T>G	XP_016878433.1:p.Tyr1464Ter
NM_004380.3:c.4398T>G MANE Select	NP_004371.2:p.Tyr1466Ter