Canonical Allele Identifier: CA394564031

Gene: CREBBP

Linked Data

• dbSNP Id: rs2151330127
• MyVariant Identifiers: chr16:g.3786805C>G (hg19) ; chr16:g.3736804C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3736804C>G , CM000678.2:g.3736804C>G	GRCh38
NC_000016.9:g.3786805C>G , CM000678.1:g.3786805C>G	GRCh37
NC_000016.8:g.3726806C>G	NCBI36
NG_009873.1:g.148317G>C
NG_009873.2:g.148910G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.4406G>C MANE Select	ENSP00000262367.5:p.Gly1469Ala
ENST00000262367.9:c.4406G>C	ENSP00000262367.5:p.Gly1469Ala
ENST00000382070.7:c.4292G>C	ENSP00000371502.3:p.Gly1431Ala
ENST00000570939.2:c.3041G>C	ENSP00000461002.2:p.Gly1014Ala
ENST00000571763.5:n.196G>C
ENST00000574740.1:n.227G>C
ENST00000576720.1:n.3229G>C
NM_001079846.1:c.4292G>C	NP_001073315.1:p.Gly1431Ala
NM_004380.2:c.4406G>C	NP_004371.2:p.Gly1469Ala
XM_005255124.3:c.4361G>C	XP_005255181.1:p.Gly1454Ala
XM_005255125.3:c.3989G>C	XP_005255182.1:p.Gly1330Ala
XM_006720848.2:c.4145G>C	XP_006720911.1:p.Gly1382Ala
XM_011522380.1:c.4352G>C	XP_011520682.1:p.Gly1451Ala
XM_011522381.1:c.3653G>C	XP_011520683.1:p.Gly1218Ala
XM_005255124.4:c.4361G>C	XP_005255181.1:p.Gly1454Ala
XM_005255125.4:c.3989G>C	XP_005255182.1:p.Gly1330Ala
XM_006720848.3:c.4145G>C	XP_006720911.1:p.Gly1382Ala
XM_011522381.2:c.3653G>C	XP_011520683.1:p.Gly1218Ala
XM_017022944.1:c.4400G>C	XP_016878433.1:p.Gly1467Ala
NM_004380.3:c.4406G>C MANE Select	NP_004371.2:p.Gly1469Ala