Canonical Allele Identifier: CA394568537

Gene: CREBBP

Linked Data

• MyVariant Identifiers: chr16:g.3807811T>C (hg19) ; chr16:g.3757810T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3757810T>C , CM000678.2:g.3757810T>C	GRCh38
NC_000016.9:g.3807811T>C , CM000678.1:g.3807811T>C	GRCh37
NC_000016.8:g.3747812T>C	NCBI36
NG_009873.1:g.127311A>G
NG_009873.2:g.127904A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000262367.10:c.3608A>G MANE Select	ENSP00000262367.5:p.Lys1203Arg
ENST00000262367.9:c.3608A>G	ENSP00000262367.5:p.Lys1203Arg
ENST00000382070.7:c.3494A>G	ENSP00000371502.3:p.Lys1165Arg
ENST00000570939.2:c.2213A>G	ENSP00000461002.2:p.Lys738Arg
NM_001079846.1:c.3494A>G	NP_001073315.1:p.Lys1165Arg
NM_004380.2:c.3608A>G	NP_004371.2:p.Lys1203Arg
XM_005255124.3:c.3563A>G	XP_005255181.1:p.Lys1188Arg
XM_005255125.3:c.3191A>G	XP_005255182.1:p.Lys1064Arg
XM_006720848.2:c.3608A>G	XP_006720911.1:p.Lys1203Arg
XM_011522380.1:c.3554A>G	XP_011520682.1:p.Lys1185Arg
XM_011522381.1:c.2855A>G	XP_011520683.1:p.Lys952Arg
XM_011522382.1:c.3608A>G	XP_011520684.1:p.Lys1203Arg
XM_005255124.4:c.3563A>G	XP_005255181.1:p.Lys1188Arg
XM_005255125.4:c.3191A>G	XP_005255182.1:p.Lys1064Arg
XM_006720848.3:c.3608A>G	XP_006720911.1:p.Lys1203Arg
XM_011522381.2:c.2855A>G	XP_011520683.1:p.Lys952Arg
XM_011522382.3:c.3608A>G	XP_011520684.1:p.Lys1203Arg
XM_017022944.1:c.3602A>G	XP_016878433.1:p.Lys1201Arg
NM_004380.3:c.3608A>G MANE Select	NP_004371.2:p.Lys1203Arg