Canonical Allele Identifier: CA394563817

Gene: CREBBP

Linked Data

• dbSNP Id: rs2151329743
• MyVariant Identifiers: chr16:g.3786749G>C (hg19) ; chr16:g.3736748G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3736748G>C , CM000678.2:g.3736748G>C	GRCh38
NC_000016.9:g.3786749G>C , CM000678.1:g.3786749G>C	GRCh37
NC_000016.8:g.3726750G>C	NCBI36
NG_009873.1:g.148373C>G
NG_009873.2:g.148966C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.4462C>G MANE Select	ENSP00000262367.5:p.Pro1488Ala
ENST00000262367.9:c.4462C>G	ENSP00000262367.5:p.Pro1488Ala
ENST00000382070.7:c.4348C>G	ENSP00000371502.3:p.Pro1450Ala
ENST00000570939.2:c.3097C>G	ENSP00000461002.2:p.Pro1033Ala
ENST00000571763.5:n.252C>G
ENST00000574740.1:n.283C>G
ENST00000576720.1:n.3285C>G
NM_001079846.1:c.4348C>G	NP_001073315.1:p.Pro1450Ala
NM_004380.2:c.4462C>G	NP_004371.2:p.Pro1488Ala
XM_005255124.3:c.4417C>G	XP_005255181.1:p.Pro1473Ala
XM_005255125.3:c.4045C>G	XP_005255182.1:p.Pro1349Ala
XM_006720848.2:c.4201C>G	XP_006720911.1:p.Pro1401Ala
XM_011522380.1:c.4408C>G	XP_011520682.1:p.Pro1470Ala
XM_011522381.1:c.3709C>G	XP_011520683.1:p.Pro1237Ala
XM_005255124.4:c.4417C>G	XP_005255181.1:p.Pro1473Ala
XM_005255125.4:c.4045C>G	XP_005255182.1:p.Pro1349Ala
XM_006720848.3:c.4201C>G	XP_006720911.1:p.Pro1401Ala
XM_011522381.2:c.3709C>G	XP_011520683.1:p.Pro1237Ala
XM_017022944.1:c.4456C>G	XP_016878433.1:p.Pro1486Ala
NM_004380.3:c.4462C>G MANE Select	NP_004371.2:p.Pro1488Ala