Canonical Allele Identifier: CA394563910

Gene: CREBBP

Linked Data

• dbSNP Id: rs770813392
• MyVariant Identifiers: chr16:g.3786765G>C (hg19) ; chr16:g.3736764G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3736764G>C , CM000678.2:g.3736764G>C	GRCh38
NC_000016.9:g.3786765G>C , CM000678.1:g.3786765G>C	GRCh37
NC_000016.8:g.3726766G>C	NCBI36
NG_009873.1:g.148357C>G
NG_009873.2:g.148950C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.4446C>G MANE Select	ENSP00000262367.5:p.Tyr1482Ter
ENST00000262367.9:c.4446C>G	ENSP00000262367.5:p.Tyr1482Ter
ENST00000382070.7:c.4332C>G	ENSP00000371502.3:p.Tyr1444Ter
ENST00000570939.2:c.3081C>G	ENSP00000461002.2:p.Tyr1027Ter
ENST00000571763.5:n.236C>G
ENST00000574740.1:n.267C>G
ENST00000576720.1:n.3269C>G
NM_001079846.1:c.4332C>G	NP_001073315.1:p.Tyr1444Ter
NM_004380.2:c.4446C>G	NP_004371.2:p.Tyr1482Ter
XM_005255124.3:c.4401C>G	XP_005255181.1:p.Tyr1467Ter
XM_005255125.3:c.4029C>G	XP_005255182.1:p.Tyr1343Ter
XM_006720848.2:c.4185C>G	XP_006720911.1:p.Tyr1395Ter
XM_011522380.1:c.4392C>G	XP_011520682.1:p.Tyr1464Ter
XM_011522381.1:c.3693C>G	XP_011520683.1:p.Tyr1231Ter
XM_005255124.4:c.4401C>G	XP_005255181.1:p.Tyr1467Ter
XM_005255125.4:c.4029C>G	XP_005255182.1:p.Tyr1343Ter
XM_006720848.3:c.4185C>G	XP_006720911.1:p.Tyr1395Ter
XM_011522381.2:c.3693C>G	XP_011520683.1:p.Tyr1231Ter
XM_017022944.1:c.4440C>G	XP_016878433.1:p.Tyr1480Ter
NM_004380.3:c.4446C>G MANE Select	NP_004371.2:p.Tyr1482Ter