Canonical Allele Identifier: CA394556479

Gene: CREBBP

Linked Data

• MyVariant Identifiers: chr16:g.3779630C>A (hg19) ; chr16:g.3729629C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3729629C>A , CM000678.2:g.3729629C>A	GRCh38
NC_000016.9:g.3779630C>A , CM000678.1:g.3779630C>A	GRCh37
NC_000016.8:g.3719631C>A	NCBI36
NG_009873.1:g.155492G>T
NG_009873.2:g.156085G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.5418G>T MANE Select	ENSP00000262367.5:p.Lys1806Asn
ENST00000262367.9:c.5418G>T	ENSP00000262367.5:p.Lys1806Asn
ENST00000382070.7:c.5304G>T	ENSP00000371502.3:p.Lys1768Asn
NM_001079846.1:c.5304G>T	NP_001073315.1:p.Lys1768Asn
NM_004380.2:c.5418G>T	NP_004371.2:p.Lys1806Asn
XM_005255124.3:c.5373G>T	XP_005255181.1:p.Lys1791Asn
XM_005255125.3:c.5001G>T	XP_005255182.1:p.Lys1667Asn
XM_006720848.2:c.5157G>T	XP_006720911.1:p.Lys1719Asn
XM_011522380.1:c.5364G>T	XP_011520682.1:p.Lys1788Asn
XM_011522381.1:c.4665G>T	XP_011520683.1:p.Lys1555Asn
XM_005255124.4:c.5373G>T	XP_005255181.1:p.Lys1791Asn
XM_005255125.4:c.5001G>T	XP_005255182.1:p.Lys1667Asn
XM_006720848.3:c.5157G>T	XP_006720911.1:p.Lys1719Asn
XM_011522381.2:c.4665G>T	XP_011520683.1:p.Lys1555Asn
XM_017022944.1:c.5412G>T	XP_016878433.1:p.Lys1804Asn
NM_004380.3:c.5418G>T MANE Select	NP_004371.2:p.Lys1806Asn