Canonical Allele Identifier: CA394563918

Gene: CREBBP

Linked Data

• dbSNP Id: rs587783496
• COSMIC: COSM5651493
• MyVariant Identifiers: chr16:g.3786766T>G (hg19) ; chr16:g.3736765T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3736765T>G , CM000678.2:g.3736765T>G	GRCh38
NC_000016.9:g.3786766T>G , CM000678.1:g.3786766T>G	GRCh37
NC_000016.8:g.3726767T>G	NCBI36
NG_009873.1:g.148356A>C
NG_009873.2:g.148949A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.4445A>C MANE Select	ENSP00000262367.5:p.Tyr1482Ser
ENST00000262367.9:c.4445A>C	ENSP00000262367.5:p.Tyr1482Ser
ENST00000382070.7:c.4331A>C	ENSP00000371502.3:p.Tyr1444Ser
ENST00000570939.2:c.3080A>C	ENSP00000461002.2:p.Tyr1027Ser
ENST00000571763.5:n.235A>C
ENST00000574740.1:n.266A>C
ENST00000576720.1:n.3268A>C
NM_001079846.1:c.4331A>C	NP_001073315.1:p.Tyr1444Ser
NM_004380.2:c.4445A>C	NP_004371.2:p.Tyr1482Ser
XM_005255124.3:c.4400A>C	XP_005255181.1:p.Tyr1467Ser
XM_005255125.3:c.4028A>C	XP_005255182.1:p.Tyr1343Ser
XM_006720848.2:c.4184A>C	XP_006720911.1:p.Tyr1395Ser
XM_011522380.1:c.4391A>C	XP_011520682.1:p.Tyr1464Ser
XM_011522381.1:c.3692A>C	XP_011520683.1:p.Tyr1231Ser
XM_005255124.4:c.4400A>C	XP_005255181.1:p.Tyr1467Ser
XM_005255125.4:c.4028A>C	XP_005255182.1:p.Tyr1343Ser
XM_006720848.3:c.4184A>C	XP_006720911.1:p.Tyr1395Ser
XM_011522381.2:c.3692A>C	XP_011520683.1:p.Tyr1231Ser
XM_017022944.1:c.4439A>C	XP_016878433.1:p.Tyr1480Ser
NM_004380.3:c.4445A>C MANE Select	NP_004371.2:p.Tyr1482Ser