Canonical Allele Identifier: CA394557060

Gene: CREBBP

Linked Data

• dbSNP Id: rs988251457
• MyVariant Identifiers: chr16:g.3779691C>A (hg19) ; chr16:g.3729690C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3729690C>A , CM000678.2:g.3729690C>A	GRCh38
NC_000016.9:g.3779691C>A , CM000678.1:g.3779691C>A	GRCh37
NC_000016.8:g.3719692C>A	NCBI36
NG_009873.1:g.155431G>T
NG_009873.2:g.156024G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.5357G>T MANE Select	ENSP00000262367.5:p.Arg1786Leu
ENST00000262367.9:c.5357G>T	ENSP00000262367.5:p.Arg1786Leu
ENST00000382070.7:c.5243G>T	ENSP00000371502.3:p.Arg1748Leu
NM_001079846.1:c.5243G>T	NP_001073315.1:p.Arg1748Leu
NM_004380.2:c.5357G>T	NP_004371.2:p.Arg1786Leu
XM_005255124.3:c.5312G>T	XP_005255181.1:p.Arg1771Leu
XM_005255125.3:c.4940G>T	XP_005255182.1:p.Arg1647Leu
XM_006720848.2:c.5096G>T	XP_006720911.1:p.Arg1699Leu
XM_011522380.1:c.5303G>T	XP_011520682.1:p.Arg1768Leu
XM_011522381.1:c.4604G>T	XP_011520683.1:p.Arg1535Leu
XM_005255124.4:c.5312G>T	XP_005255181.1:p.Arg1771Leu
XM_005255125.4:c.4940G>T	XP_005255182.1:p.Arg1647Leu
XM_006720848.3:c.5096G>T	XP_006720911.1:p.Arg1699Leu
XM_011522381.2:c.4604G>T	XP_011520683.1:p.Arg1535Leu
XM_017022944.1:c.5351G>T	XP_016878433.1:p.Arg1784Leu
NM_004380.3:c.5357G>T MANE Select	NP_004371.2:p.Arg1786Leu