Canonical Allele Identifier: CA394563672

Gene: CREBBP

Linked Data

• dbSNP Id: rs2151329614
• MyVariant Identifiers: chr16:g.3786726C>A (hg19) ; chr16:g.3736725C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3736725C>A , CM000678.2:g.3736725C>A	GRCh38
NC_000016.9:g.3786726C>A , CM000678.1:g.3786726C>A	GRCh37
NC_000016.8:g.3726727C>A	NCBI36
NG_009873.1:g.148396G>T
NG_009873.2:g.148989G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.4485G>T MANE Select	ENSP00000262367.5:p.Lys1495Asn
ENST00000262367.9:c.4485G>T	ENSP00000262367.5:p.Lys1495Asn
ENST00000382070.7:c.4371G>T	ENSP00000371502.3:p.Lys1457Asn
ENST00000570939.2:c.3120G>T	ENSP00000461002.2:p.Lys1040Asn
ENST00000571763.5:n.275G>T
ENST00000574740.1:n.306G>T
ENST00000576720.1:n.3308G>T
NM_001079846.1:c.4371G>T	NP_001073315.1:p.Lys1457Asn
NM_004380.2:c.4485G>T	NP_004371.2:p.Lys1495Asn
XM_005255124.3:c.4440G>T	XP_005255181.1:p.Lys1480Asn
XM_005255125.3:c.4068G>T	XP_005255182.1:p.Lys1356Asn
XM_006720848.2:c.4224G>T	XP_006720911.1:p.Lys1408Asn
XM_011522380.1:c.4431G>T	XP_011520682.1:p.Lys1477Asn
XM_011522381.1:c.3732G>T	XP_011520683.1:p.Lys1244Asn
XM_005255124.4:c.4440G>T	XP_005255181.1:p.Lys1480Asn
XM_005255125.4:c.4068G>T	XP_005255182.1:p.Lys1356Asn
XM_006720848.3:c.4224G>T	XP_006720911.1:p.Lys1408Asn
XM_011522381.2:c.3732G>T	XP_011520683.1:p.Lys1244Asn
XM_017022944.1:c.4479G>T	XP_016878433.1:p.Lys1493Asn
NM_004380.3:c.4485G>T MANE Select	NP_004371.2:p.Lys1495Asn