Canonical Allele Identifier: CA394563256

Gene: CREBBP

Linked Data

• dbSNP Id: rs2151329095
• MyVariant Identifiers: chr16:g.3786654G>C (hg19) ; chr16:g.3736653G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3736653G>C , CM000678.2:g.3736653G>C	GRCh38
NC_000016.9:g.3786654G>C , CM000678.1:g.3786654G>C	GRCh37
NC_000016.8:g.3726655G>C	NCBI36
NG_009873.1:g.148468C>G
NG_009873.2:g.149061C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.4557C>G MANE Select	ENSP00000262367.5:p.Tyr1519Ter
ENST00000262367.9:c.4557C>G	ENSP00000262367.5:p.Tyr1519Ter
ENST00000382070.7:c.4443C>G	ENSP00000371502.3:p.Tyr1481Ter
ENST00000570939.2:c.3192C>G	ENSP00000461002.2:p.Tyr1064Ter
ENST00000571763.5:n.347C>G
ENST00000574740.1:n.378C>G
ENST00000576720.1:n.3380C>G
NM_001079846.1:c.4443C>G	NP_001073315.1:p.Tyr1481Ter
NM_004380.2:c.4557C>G	NP_004371.2:p.Tyr1519Ter
XM_005255124.3:c.4512C>G	XP_005255181.1:p.Tyr1504Ter
XM_005255125.3:c.4140C>G	XP_005255182.1:p.Tyr1380Ter
XM_006720848.2:c.4296C>G	XP_006720911.1:p.Tyr1432Ter
XM_011522380.1:c.4503C>G	XP_011520682.1:p.Tyr1501Ter
XM_011522381.1:c.3804C>G	XP_011520683.1:p.Tyr1268Ter
XM_005255124.4:c.4512C>G	XP_005255181.1:p.Tyr1504Ter
XM_005255125.4:c.4140C>G	XP_005255182.1:p.Tyr1380Ter
XM_006720848.3:c.4296C>G	XP_006720911.1:p.Tyr1432Ter
XM_011522381.2:c.3804C>G	XP_011520683.1:p.Tyr1268Ter
XM_017022944.1:c.4551C>G	XP_016878433.1:p.Tyr1517Ter
NM_004380.3:c.4557C>G MANE Select	NP_004371.2:p.Tyr1519Ter