Canonical Allele Identifier: CA394551086

Gene: CREBBP

Linked Data

• dbSNP Id: rs2151300261
• MyVariant Identifiers: chr16:g.3778096G>A (hg19) ; chr16:g.3728095G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3728095G>A , CM000678.2:g.3728095G>A	GRCh38
NC_000016.9:g.3778096G>A , CM000678.1:g.3778096G>A	GRCh37
NC_000016.8:g.3718097G>A	NCBI36
NG_009873.1:g.157026C>T
NG_009873.2:g.157619C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.6952C>T MANE Select	ENSP00000262367.5:p.Gln2318Ter
ENST00000262367.9:c.6952C>T	ENSP00000262367.5:p.Gln2318Ter
ENST00000382070.7:c.6838C>T	ENSP00000371502.3:p.Gln2280Ter
NM_001079846.1:c.6838C>T	NP_001073315.1:p.Gln2280Ter
NM_004380.2:c.6952C>T	NP_004371.2:p.Gln2318Ter
XM_005255124.3:c.6907C>T	XP_005255181.1:p.Gln2303Ter
XM_005255125.3:c.6535C>T	XP_005255182.1:p.Gln2179Ter
XM_006720848.2:c.6691C>T	XP_006720911.1:p.Gln2231Ter
XM_011522380.1:c.6898C>T	XP_011520682.1:p.Gln2300Ter
XM_011522381.1:c.6199C>T	XP_011520683.1:p.Gln2067Ter
XM_005255124.4:c.6907C>T	XP_005255181.1:p.Gln2303Ter
XM_005255125.4:c.6535C>T	XP_005255182.1:p.Gln2179Ter
XM_006720848.3:c.6691C>T	XP_006720911.1:p.Gln2231Ter
XM_011522381.2:c.6199C>T	XP_011520683.1:p.Gln2067Ter
XM_017022944.1:c.6946C>T	XP_016878433.1:p.Gln2316Ter
NM_004380.3:c.6952C>T MANE Select	NP_004371.2:p.Gln2318Ter