Canonical Allele Identifier: CA394556497

Gene: CREBBP

Linked Data

• dbSNP Id: rs2151310994
• MyVariant Identifiers: chr16:g.3779634G>A (hg19) ; chr16:g.3729633G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3729633G>A , CM000678.2:g.3729633G>A	GRCh38
NC_000016.9:g.3779634G>A , CM000678.1:g.3779634G>A	GRCh37
NC_000016.8:g.3719635G>A	NCBI36
NG_009873.1:g.155488C>T
NG_009873.2:g.156081C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.5414C>T MANE Select	ENSP00000262367.5:p.Thr1805Ile
ENST00000262367.9:c.5414C>T	ENSP00000262367.5:p.Thr1805Ile
ENST00000382070.7:c.5300C>T	ENSP00000371502.3:p.Thr1767Ile
NM_001079846.1:c.5300C>T	NP_001073315.1:p.Thr1767Ile
NM_004380.2:c.5414C>T	NP_004371.2:p.Thr1805Ile
XM_005255124.3:c.5369C>T	XP_005255181.1:p.Thr1790Ile
XM_005255125.3:c.4997C>T	XP_005255182.1:p.Thr1666Ile
XM_006720848.2:c.5153C>T	XP_006720911.1:p.Thr1718Ile
XM_011522380.1:c.5360C>T	XP_011520682.1:p.Thr1787Ile
XM_011522381.1:c.4661C>T	XP_011520683.1:p.Thr1554Ile
XM_005255124.4:c.5369C>T	XP_005255181.1:p.Thr1790Ile
XM_005255125.4:c.4997C>T	XP_005255182.1:p.Thr1666Ile
XM_006720848.3:c.5153C>T	XP_006720911.1:p.Thr1718Ile
XM_011522381.2:c.4661C>T	XP_011520683.1:p.Thr1554Ile
XM_017022944.1:c.5408C>T	XP_016878433.1:p.Thr1803Ile
NM_004380.3:c.5414C>T MANE Select	NP_004371.2:p.Thr1805Ile