Canonical Allele Identifier: CA394563727

Gene: CREBBP

Linked Data

• MyVariant Identifiers: chr16:g.3786736T>G (hg19) ; chr16:g.3736735T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3736735T>G , CM000678.2:g.3736735T>G	GRCh38
NC_000016.9:g.3786736T>G , CM000678.1:g.3786736T>G	GRCh37
NC_000016.8:g.3726737T>G	NCBI36
NG_009873.1:g.148386A>C
NG_009873.2:g.148979A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000262367.10:c.4475A>C MANE Select	ENSP00000262367.5:p.Lys1492Thr
ENST00000262367.9:c.4475A>C	ENSP00000262367.5:p.Lys1492Thr
ENST00000382070.7:c.4361A>C	ENSP00000371502.3:p.Lys1454Thr
ENST00000570939.2:c.3110A>C	ENSP00000461002.2:p.Lys1037Thr
ENST00000571763.5:n.265A>C
ENST00000574740.1:n.296A>C
ENST00000576720.1:n.3298A>C
NM_001079846.1:c.4361A>C	NP_001073315.1:p.Lys1454Thr
NM_004380.2:c.4475A>C	NP_004371.2:p.Lys1492Thr
XM_005255124.3:c.4430A>C	XP_005255181.1:p.Lys1477Thr
XM_005255125.3:c.4058A>C	XP_005255182.1:p.Lys1353Thr
XM_006720848.2:c.4214A>C	XP_006720911.1:p.Lys1405Thr
XM_011522380.1:c.4421A>C	XP_011520682.1:p.Lys1474Thr
XM_011522381.1:c.3722A>C	XP_011520683.1:p.Lys1241Thr
XM_005255124.4:c.4430A>C	XP_005255181.1:p.Lys1477Thr
XM_005255125.4:c.4058A>C	XP_005255182.1:p.Lys1353Thr
XM_006720848.3:c.4214A>C	XP_006720911.1:p.Lys1405Thr
XM_011522381.2:c.3722A>C	XP_011520683.1:p.Lys1241Thr
XM_017022944.1:c.4469A>C	XP_016878433.1:p.Lys1490Thr
NM_004380.3:c.4475A>C MANE Select	NP_004371.2:p.Lys1492Thr