Canonical Allele Identifier: CA394568756

Gene: CREBBP

Linked Data

• MyVariant Identifiers: chr16:g.3807905A>C (hg19) ; chr16:g.3757904A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3757904A>C , CM000678.2:g.3757904A>C	GRCh38
NC_000016.9:g.3807905A>C , CM000678.1:g.3807905A>C	GRCh37
NC_000016.8:g.3747906A>C	NCBI36
NG_009873.1:g.127217T>G
NG_009873.2:g.127810T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000262367.10:c.3514T>G MANE Select	ENSP00000262367.5:p.Ser1172Ala
ENST00000262367.9:c.3514T>G	ENSP00000262367.5:p.Ser1172Ala
ENST00000382070.7:c.3400T>G	ENSP00000371502.3:p.Ser1134Ala
ENST00000570939.2:c.2119T>G	ENSP00000461002.2:p.Ser707Ala
NM_001079846.1:c.3400T>G	NP_001073315.1:p.Ser1134Ala
NM_004380.2:c.3514T>G	NP_004371.2:p.Ser1172Ala
XM_005255124.3:c.3469T>G	XP_005255181.1:p.Ser1157Ala
XM_005255125.3:c.3097T>G	XP_005255182.1:p.Ser1033Ala
XM_006720848.2:c.3514T>G	XP_006720911.1:p.Ser1172Ala
XM_011522380.1:c.3460T>G	XP_011520682.1:p.Ser1154Ala
XM_011522381.1:c.2761T>G	XP_011520683.1:p.Ser921Ala
XM_011522382.1:c.3514T>G	XP_011520684.1:p.Ser1172Ala
XM_005255124.4:c.3469T>G	XP_005255181.1:p.Ser1157Ala
XM_005255125.4:c.3097T>G	XP_005255182.1:p.Ser1033Ala
XM_006720848.3:c.3514T>G	XP_006720911.1:p.Ser1172Ala
XM_011522381.2:c.2761T>G	XP_011520683.1:p.Ser921Ala
XM_011522382.3:c.3514T>G	XP_011520684.1:p.Ser1172Ala
XM_017022944.1:c.3508T>G	XP_016878433.1:p.Ser1170Ala
NM_004380.3:c.3514T>G MANE Select	NP_004371.2:p.Ser1172Ala