Canonical Allele Identifier: CA394565307

Gene: CREBBP

Linked Data

• dbSNP Id: rs2151340237
• MyVariant Identifiers: chr16:g.3790451A>G (hg19) ; chr16:g.3740450A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3740450A>G , CM000678.2:g.3740450A>G	GRCh38
NC_000016.9:g.3790451A>G , CM000678.1:g.3790451A>G	GRCh37
NC_000016.8:g.3730452A>G	NCBI36
NG_009873.1:g.144671T>C
NG_009873.2:g.145264T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000262367.10:c.4082T>C MANE Select	ENSP00000262367.5:p.Val1361Ala
ENST00000262367.9:c.4082T>C	ENSP00000262367.5:p.Val1361Ala
ENST00000382070.7:c.3968T>C	ENSP00000371502.3:p.Val1323Ala
ENST00000570939.2:c.2717T>C	ENSP00000461002.2:p.Val906Ala
ENST00000572569.1:n.546T>C
ENST00000573517.6:c.388T>C
ENST00000574740.1:n.164T>C
ENST00000576720.1:n.3019T>C
NM_001079846.1:c.3968T>C	NP_001073315.1:p.Val1323Ala
NM_004380.2:c.4082T>C	NP_004371.2:p.Val1361Ala
XM_005255124.3:c.4037T>C	XP_005255181.1:p.Val1346Ala
XM_005255125.3:c.3665T>C	XP_005255182.1:p.Val1222Ala
XM_006720848.2:c.4082T>C	XP_006720911.1:p.Val1361Ala
XM_011522380.1:c.4028T>C	XP_011520682.1:p.Val1343Ala
XM_011522381.1:c.3329T>C	XP_011520683.1:p.Val1110Ala
XM_005255124.4:c.4037T>C	XP_005255181.1:p.Val1346Ala
XM_005255125.4:c.3665T>C	XP_005255182.1:p.Val1222Ala
XM_006720848.3:c.4082T>C	XP_006720911.1:p.Val1361Ala
XM_011522381.2:c.3329T>C	XP_011520683.1:p.Val1110Ala
XM_017022944.1:c.4076T>C	XP_016878433.1:p.Val1359Ala
NM_004380.3:c.4082T>C MANE Select	NP_004371.2:p.Val1361Ala