Canonical Allele Identifier: CA394551548

Gene: CREBBP

Linked Data

• dbSNP Id: rs1287881042
• MyVariant Identifiers: chr16:g.3820857C>G (hg19) ; chr16:g.3770856C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3770856C>G , CM000678.2:g.3770856C>G	GRCh38
NC_000016.9:g.3820857C>G , CM000678.1:g.3820857C>G	GRCh37
NC_000016.8:g.3760858C>G	NCBI36
NG_009873.1:g.114265G>C
NG_009873.2:g.114858G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000262367.10:c.2594G>C MANE Select	ENSP00000262367.5:p.Gly865Ala
ENST00000262367.9:c.2594G>C	ENSP00000262367.5:p.Gly865Ala
ENST00000382070.7:c.2480G>C	ENSP00000371502.3:p.Gly827Ala
ENST00000570939.2:c.1199G>C	ENSP00000461002.2:p.Gly400Ala
NM_001079846.1:c.2480G>C	NP_001073315.1:p.Gly827Ala
NM_004380.2:c.2594G>C	NP_004371.2:p.Gly865Ala
XM_005255124.3:c.2549G>C	XP_005255181.1:p.Gly850Ala
XM_005255125.3:c.2464-1503G>C	XP_005255182.1:n.2464-1503G>C
XM_006720848.2:c.2594G>C	XP_006720911.1:p.Gly865Ala
XM_011522380.1:c.2540G>C	XP_011520682.1:p.Gly847Ala
XM_011522381.1:c.1841G>C	XP_011520683.1:p.Gly614Ala
XM_011522382.1:c.2594G>C	XP_011520684.1:p.Gly865Ala
XM_005255124.4:c.2549G>C	XP_005255181.1:p.Gly850Ala
XM_005255125.4:c.2464-1503G>C	XP_005255182.1:n.2464-1503G>C
XM_006720848.3:c.2594G>C	XP_006720911.1:p.Gly865Ala
XM_011522381.2:c.1841G>C	XP_011520683.1:p.Gly614Ala
XM_011522382.3:c.2594G>C	XP_011520684.1:p.Gly865Ala
XM_017022944.1:c.2588G>C	XP_016878433.1:p.Gly863Ala
NM_004380.3:c.2594G>C MANE Select	NP_004371.2:p.Gly865Ala