Canonical Allele Identifier: CA394563236

Gene: CREBBP

Linked Data

• MyVariant Identifiers: chr16:g.3786651C>A (hg19) ; chr16:g.3736650C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3736650C>A , CM000678.2:g.3736650C>A	GRCh38
NC_000016.9:g.3786651C>A , CM000678.1:g.3786651C>A	GRCh37
NC_000016.8:g.3726652C>A	NCBI36
NG_009873.1:g.148471G>T
NG_009873.2:g.149064G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.4560G>T MANE Select	ENSP00000262367.5:p.Lys1520Asn
ENST00000262367.9:c.4560G>T	ENSP00000262367.5:p.Lys1520Asn
ENST00000382070.7:c.4446G>T	ENSP00000371502.3:p.Lys1482Asn
ENST00000570939.2:c.3195G>T	ENSP00000461002.2:p.Lys1065Asn
ENST00000571763.5:n.350G>T
ENST00000574740.1:n.381G>T
ENST00000576720.1:n.3383G>T
NM_001079846.1:c.4446G>T	NP_001073315.1:p.Lys1482Asn
NM_004380.2:c.4560G>T	NP_004371.2:p.Lys1520Asn
XM_005255124.3:c.4515G>T	XP_005255181.1:p.Lys1505Asn
XM_005255125.3:c.4143G>T	XP_005255182.1:p.Lys1381Asn
XM_006720848.2:c.4299G>T	XP_006720911.1:p.Lys1433Asn
XM_011522380.1:c.4506G>T	XP_011520682.1:p.Lys1502Asn
XM_011522381.1:c.3807G>T	XP_011520683.1:p.Lys1269Asn
XM_005255124.4:c.4515G>T	XP_005255181.1:p.Lys1505Asn
XM_005255125.4:c.4143G>T	XP_005255182.1:p.Lys1381Asn
XM_006720848.3:c.4299G>T	XP_006720911.1:p.Lys1433Asn
XM_011522381.2:c.3807G>T	XP_011520683.1:p.Lys1269Asn
XM_017022944.1:c.4554G>T	XP_016878433.1:p.Lys1518Asn
NM_004380.3:c.4560G>T MANE Select	NP_004371.2:p.Lys1520Asn