Canonical Allele Identifier: CA394563820

Gene: CREBBP

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.4462C>A MANE Select	ENSP00000262367.5:p.Pro1488Thr
ENST00000262367.9:c.4462C>A	ENSP00000262367.5:p.Pro1488Thr
ENST00000382070.7:c.4348C>A	ENSP00000371502.3:p.Pro1450Thr
ENST00000570939.2:c.3097C>A	ENSP00000461002.2:p.Pro1033Thr
ENST00000571763.5:n.252C>A
ENST00000574740.1:n.283C>A
ENST00000576720.1:n.3285C>A
NM_001079846.1:c.4348C>A	NP_001073315.1:p.Pro1450Thr
NM_004380.2:c.4462C>A	NP_004371.2:p.Pro1488Thr
XM_005255124.3:c.4417C>A	XP_005255181.1:p.Pro1473Thr
XM_005255125.3:c.4045C>A	XP_005255182.1:p.Pro1349Thr
XM_006720848.2:c.4201C>A	XP_006720911.1:p.Pro1401Thr
XM_011522380.1:c.4408C>A	XP_011520682.1:p.Pro1470Thr
XM_011522381.1:c.3709C>A	XP_011520683.1:p.Pro1237Thr
XM_005255124.4:c.4417C>A	XP_005255181.1:p.Pro1473Thr
XM_005255125.4:c.4045C>A	XP_005255182.1:p.Pro1349Thr
XM_006720848.3:c.4201C>A	XP_006720911.1:p.Pro1401Thr
XM_011522381.2:c.3709C>A	XP_011520683.1:p.Pro1237Thr
XM_017022944.1:c.4456C>A	XP_016878433.1:p.Pro1486Thr
NM_004380.3:c.4462C>A MANE Select	NP_004371.2:p.Pro1488Thr