Canonical Allele Identifier: CA394568534

Gene: CREBBP

Linked Data

• MyVariant Identifiers: chr16:g.3807810C>G (hg19) ; chr16:g.3757809C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3757809C>G , CM000678.2:g.3757809C>G	GRCh38
NC_000016.9:g.3807810C>G , CM000678.1:g.3807810C>G	GRCh37
NC_000016.8:g.3747811C>G	NCBI36
NG_009873.1:g.127312G>C
NG_009873.2:g.127905G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000262367.10:c.3609G>C MANE Select	ENSP00000262367.5:p.Lys1203Asn
ENST00000262367.9:c.3609G>C	ENSP00000262367.5:p.Lys1203Asn
ENST00000382070.7:c.3495G>C	ENSP00000371502.3:p.Lys1165Asn
ENST00000570939.2:c.2214G>C	ENSP00000461002.2:p.Lys738Asn
NM_001079846.1:c.3495G>C	NP_001073315.1:p.Lys1165Asn
NM_004380.2:c.3609G>C	NP_004371.2:p.Lys1203Asn
XM_005255124.3:c.3564G>C	XP_005255181.1:p.Lys1188Asn
XM_005255125.3:c.3192G>C	XP_005255182.1:p.Lys1064Asn
XM_006720848.2:c.3609G>C	XP_006720911.1:p.Lys1203Asn
XM_011522380.1:c.3555G>C	XP_011520682.1:p.Lys1185Asn
XM_011522381.1:c.2856G>C	XP_011520683.1:p.Lys952Asn
XM_011522382.1:c.3609G>C	XP_011520684.1:p.Lys1203Asn
XM_005255124.4:c.3564G>C	XP_005255181.1:p.Lys1188Asn
XM_005255125.4:c.3192G>C	XP_005255182.1:p.Lys1064Asn
XM_006720848.3:c.3609G>C	XP_006720911.1:p.Lys1203Asn
XM_011522381.2:c.2856G>C	XP_011520683.1:p.Lys952Asn
XM_011522382.3:c.3609G>C	XP_011520684.1:p.Lys1203Asn
XM_017022944.1:c.3603G>C	XP_016878433.1:p.Lys1201Asn
NM_004380.3:c.3609G>C MANE Select	NP_004371.2:p.Lys1203Asn