Canonical Allele Identifier: CA394563262

Gene: CREBBP

Linked Data

• dbSNP Id: rs2151329108
• MyVariant Identifiers: chr16:g.3786655T>G (hg19) ; chr16:g.3736654T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3736654T>G , CM000678.2:g.3736654T>G	GRCh38
NC_000016.9:g.3786655T>G , CM000678.1:g.3786655T>G	GRCh37
NC_000016.8:g.3726656T>G	NCBI36
NG_009873.1:g.148467A>C
NG_009873.2:g.149060A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.4556A>C MANE Select	ENSP00000262367.5:p.Tyr1519Ser
ENST00000262367.9:c.4556A>C	ENSP00000262367.5:p.Tyr1519Ser
ENST00000382070.7:c.4442A>C	ENSP00000371502.3:p.Tyr1481Ser
ENST00000570939.2:c.3191A>C	ENSP00000461002.2:p.Tyr1064Ser
ENST00000571763.5:n.346A>C
ENST00000574740.1:n.377A>C
ENST00000576720.1:n.3379A>C
NM_001079846.1:c.4442A>C	NP_001073315.1:p.Tyr1481Ser
NM_004380.2:c.4556A>C	NP_004371.2:p.Tyr1519Ser
XM_005255124.3:c.4511A>C	XP_005255181.1:p.Tyr1504Ser
XM_005255125.3:c.4139A>C	XP_005255182.1:p.Tyr1380Ser
XM_006720848.2:c.4295A>C	XP_006720911.1:p.Tyr1432Ser
XM_011522380.1:c.4502A>C	XP_011520682.1:p.Tyr1501Ser
XM_011522381.1:c.3803A>C	XP_011520683.1:p.Tyr1268Ser
XM_005255124.4:c.4511A>C	XP_005255181.1:p.Tyr1504Ser
XM_005255125.4:c.4139A>C	XP_005255182.1:p.Tyr1380Ser
XM_006720848.3:c.4295A>C	XP_006720911.1:p.Tyr1432Ser
XM_011522381.2:c.3803A>C	XP_011520683.1:p.Tyr1268Ser
XM_017022944.1:c.4550A>C	XP_016878433.1:p.Tyr1517Ser
NM_004380.3:c.4556A>C MANE Select	NP_004371.2:p.Tyr1519Ser