Canonical Allele Identifier: CA394565204

Gene: CREBBP

Linked Data

• MyVariant Identifiers: chr16:g.3790405C>A (hg19) ; chr16:g.3740404C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3740404C>A , CM000678.2:g.3740404C>A	GRCh38
NC_000016.9:g.3790405C>A , CM000678.1:g.3790405C>A	GRCh37
NC_000016.8:g.3730406C>A	NCBI36
NG_009873.1:g.144717G>T
NG_009873.2:g.145310G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.4128G>T MANE Select	ENSP00000262367.5:p.Lys1376Asn
ENST00000262367.9:c.4128G>T	ENSP00000262367.5:p.Lys1376Asn
ENST00000382070.7:c.4014G>T	ENSP00000371502.3:p.Lys1338Asn
ENST00000570939.2:c.2763G>T	ENSP00000461002.2:p.Lys921Asn
ENST00000573517.6:c.434G>T
ENST00000574740.1:n.210G>T
ENST00000576720.1:n.3065G>T
NM_001079846.1:c.4014G>T	NP_001073315.1:p.Lys1338Asn
NM_004380.2:c.4128G>T	NP_004371.2:p.Lys1376Asn
XM_005255124.3:c.4083G>T	XP_005255181.1:p.Lys1361Asn
XM_005255125.3:c.3711G>T	XP_005255182.1:p.Lys1237Asn
XM_006720848.2:c.4128G>T	XP_006720911.1:p.Lys1376Asn
XM_011522380.1:c.4074G>T	XP_011520682.1:p.Lys1358Asn
XM_011522381.1:c.3375G>T	XP_011520683.1:p.Lys1125Asn
XM_005255124.4:c.4083G>T	XP_005255181.1:p.Lys1361Asn
XM_005255125.4:c.3711G>T	XP_005255182.1:p.Lys1237Asn
XM_006720848.3:c.4128G>T	XP_006720911.1:p.Lys1376Asn
XM_011522381.2:c.3375G>T	XP_011520683.1:p.Lys1125Asn
XM_017022944.1:c.4122G>T	XP_016878433.1:p.Lys1374Asn
NM_004380.3:c.4128G>T MANE Select	NP_004371.2:p.Lys1376Asn