Canonical Allele Identifier: CA394566460

Gene: CREBBP

Linked Data

• MyVariant Identifiers: chr16:g.3794896C>G (hg19) ; chr16:g.3744895C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3744895C>G , CM000678.2:g.3744895C>G	GRCh38
NC_000016.9:g.3794896C>G , CM000678.1:g.3794896C>G	GRCh37
NC_000016.8:g.3734897C>G	NCBI36
NG_009873.1:g.140226G>C
NG_009873.2:g.140819G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000262367.10:c.3981G>C MANE Select	ENSP00000262367.5:p.Lys1327Asn
ENST00000635919.1:n.29G>C
ENST00000262367.9:c.3981G>C	ENSP00000262367.5:p.Lys1327Asn
ENST00000382070.7:c.3867G>C	ENSP00000371502.3:p.Lys1289Asn
ENST00000570939.2:c.2616G>C	ENSP00000461002.2:p.Lys872Asn
ENST00000572569.1:n.445G>C
ENST00000573517.6:c.287G>C
ENST00000574740.1:n.63G>C
NM_001079846.1:c.3867G>C	NP_001073315.1:p.Lys1289Asn
NM_004380.2:c.3981G>C	NP_004371.2:p.Lys1327Asn
XM_005255124.3:c.3936G>C	XP_005255181.1:p.Lys1312Asn
XM_005255125.3:c.3564G>C	XP_005255182.1:p.Lys1188Asn
XM_006720848.2:c.3981G>C	XP_006720911.1:p.Lys1327Asn
XM_011522380.1:c.3927G>C	XP_011520682.1:p.Lys1309Asn
XM_011522381.1:c.3228G>C	XP_011520683.1:p.Lys1076Asn
XM_005255124.4:c.3936G>C	XP_005255181.1:p.Lys1312Asn
XM_005255125.4:c.3564G>C	XP_005255182.1:p.Lys1188Asn
XM_006720848.3:c.3981G>C	XP_006720911.1:p.Lys1327Asn
XM_011522381.2:c.3228G>C	XP_011520683.1:p.Lys1076Asn
XM_017022944.1:c.3975G>C	XP_016878433.1:p.Lys1325Asn
NM_004380.3:c.3981G>C MANE Select	NP_004371.2:p.Lys1327Asn