Canonical Allele Identifier: CA394568761

Gene: CREBBP

Linked Data

• ClinVar Variation Id: 620027
• ClinVar RCV Id: RCV000760233
• MyVariant Identifiers: chr16:g.3807907G>C (hg19) ; chr16:g.3757906G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3757906G>C , CM000678.2:g.3757906G>C	GRCh38
NC_000016.9:g.3807907G>C , CM000678.1:g.3807907G>C	GRCh37
NC_000016.8:g.3747908G>C	NCBI36
NG_009873.1:g.127215C>G
NG_009873.2:g.127808C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000262367.10:c.3512C>G MANE Select	ENSP00000262367.5:p.Thr1171Arg
ENST00000262367.9:c.3512C>G	ENSP00000262367.5:p.Thr1171Arg
ENST00000382070.7:c.3398C>G	ENSP00000371502.3:p.Thr1133Arg
ENST00000570939.2:c.2117C>G	ENSP00000461002.2:p.Thr706Arg
NM_001079846.1:c.3398C>G	NP_001073315.1:p.Thr1133Arg
NM_004380.2:c.3512C>G	NP_004371.2:p.Thr1171Arg
XM_005255124.3:c.3467C>G	XP_005255181.1:p.Thr1156Arg
XM_005255125.3:c.3095C>G	XP_005255182.1:p.Thr1032Arg
XM_006720848.2:c.3512C>G	XP_006720911.1:p.Thr1171Arg
XM_011522380.1:c.3458C>G	XP_011520682.1:p.Thr1153Arg
XM_011522381.1:c.2759C>G	XP_011520683.1:p.Thr920Arg
XM_011522382.1:c.3512C>G	XP_011520684.1:p.Thr1171Arg
XM_005255124.4:c.3467C>G	XP_005255181.1:p.Thr1156Arg
XM_005255125.4:c.3095C>G	XP_005255182.1:p.Thr1032Arg
XM_006720848.3:c.3512C>G	XP_006720911.1:p.Thr1171Arg
XM_011522381.2:c.2759C>G	XP_011520683.1:p.Thr920Arg
XM_011522382.3:c.3512C>G	XP_011520684.1:p.Thr1171Arg
XM_017022944.1:c.3506C>G	XP_016878433.1:p.Thr1169Arg
NM_004380.3:c.3512C>G MANE Select	NP_004371.2:p.Thr1171Arg