Canonical Allele Identifier: CA394560797

Gene: CREBBP

Linked Data

• ClinVar Variation Id: 2443561
• ClinVar RCV Id: RCV003152168
• dbSNP Id: rs2053518920
• MyVariant Identifiers: chr16:g.3842060G>T (hg19) ; chr16:g.3792059G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3792059G>T , CM000678.2:g.3792059G>T	GRCh38
NC_000016.9:g.3842060G>T , CM000678.1:g.3842060G>T	GRCh37
NC_000016.8:g.3782061G>T	NCBI36
NG_009873.1:g.93062C>A
NG_009873.2:g.93655C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.1252C>A MANE Select	ENSP00000262367.5:p.His418Asn
ENST00000262367.9:c.1252C>A	ENSP00000262367.5:p.His418Asn
ENST00000382070.7:c.1216+1327C>A	ENSP00000371502.3:n.1216+1327C>A
NM_001079846.1:c.1216+1327C>A	NP_001073315.1:n.1216+1327C>A
NM_004380.2:c.1252C>A	NP_004371.2:p.His418Asn
XM_005255124.3:c.1252C>A	XP_005255181.1:p.His418Asn
XM_005255125.3:c.1252C>A	XP_005255182.1:p.His418Asn
XM_006720848.2:c.1252C>A	XP_006720911.1:p.His418Asn
XM_011522380.1:c.1198C>A	XP_011520682.1:p.His400Asn
XM_011522381.1:c.499C>A	XP_011520683.1:p.His167Asn
XM_011522382.1:c.1252C>A	XP_011520684.1:p.His418Asn
XM_005255124.4:c.1252C>A	XP_005255181.1:p.His418Asn
XM_005255125.4:c.1252C>A	XP_005255182.1:p.His418Asn
XM_006720848.3:c.1252C>A	XP_006720911.1:p.His418Asn
XM_011522381.2:c.499C>A	XP_011520683.1:p.His167Asn
XM_011522382.3:c.1252C>A	XP_011520684.1:p.His418Asn
XM_017022944.1:c.1252C>A	XP_016878433.1:p.His418Asn
NM_004380.3:c.1252C>A MANE Select	NP_004371.2:p.His418Asn