Canonical Allele Identifier: CA394568750

Gene: CREBBP

Linked Data

• dbSNP Id: rs2151383336
• gnomAD v4: 16-3757900-C-T
• MyVariant Identifiers: chr16:g.3807901C>T (hg19) ; chr16:g.3757900C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3757900C>T , CM000678.2:g.3757900C>T	GRCh38
NC_000016.9:g.3807901C>T , CM000678.1:g.3807901C>T	GRCh37
NC_000016.8:g.3747902C>T	NCBI36
NG_009873.1:g.127221G>A
NG_009873.2:g.127814G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000262367.10:c.3518G>A MANE Select	ENSP00000262367.5:p.Arg1173Gln
ENST00000262367.9:c.3518G>A	ENSP00000262367.5:p.Arg1173Gln
ENST00000382070.7:c.3404G>A	ENSP00000371502.3:p.Arg1135Gln
ENST00000570939.2:c.2123G>A	ENSP00000461002.2:p.Arg708Gln
NM_001079846.1:c.3404G>A	NP_001073315.1:p.Arg1135Gln
NM_004380.2:c.3518G>A	NP_004371.2:p.Arg1173Gln
XM_005255124.3:c.3473G>A	XP_005255181.1:p.Arg1158Gln
XM_005255125.3:c.3101G>A	XP_005255182.1:p.Arg1034Gln
XM_006720848.2:c.3518G>A	XP_006720911.1:p.Arg1173Gln
XM_011522380.1:c.3464G>A	XP_011520682.1:p.Arg1155Gln
XM_011522381.1:c.2765G>A	XP_011520683.1:p.Arg922Gln
XM_011522382.1:c.3518G>A	XP_011520684.1:p.Arg1173Gln
XM_005255124.4:c.3473G>A	XP_005255181.1:p.Arg1158Gln
XM_005255125.4:c.3101G>A	XP_005255182.1:p.Arg1034Gln
XM_006720848.3:c.3518G>A	XP_006720911.1:p.Arg1173Gln
XM_011522381.2:c.2765G>A	XP_011520683.1:p.Arg922Gln
XM_011522382.3:c.3518G>A	XP_011520684.1:p.Arg1173Gln
XM_017022944.1:c.3512G>A	XP_016878433.1:p.Arg1171Gln
NM_004380.3:c.3518G>A MANE Select	NP_004371.2:p.Arg1173Gln