Canonical Allele Identifier: CA394563915

Gene: CREBBP

Linked Data

• MyVariant Identifiers: chr16:g.3786766T>A (hg19) ; chr16:g.3736765T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3736765T>A , CM000678.2:g.3736765T>A	GRCh38
NC_000016.9:g.3786766T>A , CM000678.1:g.3786766T>A	GRCh37
NC_000016.8:g.3726767T>A	NCBI36
NG_009873.1:g.148356A>T
NG_009873.2:g.148949A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.4445A>T MANE Select	ENSP00000262367.5:p.Tyr1482Phe
ENST00000262367.9:c.4445A>T	ENSP00000262367.5:p.Tyr1482Phe
ENST00000382070.7:c.4331A>T	ENSP00000371502.3:p.Tyr1444Phe
ENST00000570939.2:c.3080A>T	ENSP00000461002.2:p.Tyr1027Phe
ENST00000571763.5:n.235A>T
ENST00000574740.1:n.266A>T
ENST00000576720.1:n.3268A>T
NM_001079846.1:c.4331A>T	NP_001073315.1:p.Tyr1444Phe
NM_004380.2:c.4445A>T	NP_004371.2:p.Tyr1482Phe
XM_005255124.3:c.4400A>T	XP_005255181.1:p.Tyr1467Phe
XM_005255125.3:c.4028A>T	XP_005255182.1:p.Tyr1343Phe
XM_006720848.2:c.4184A>T	XP_006720911.1:p.Tyr1395Phe
XM_011522380.1:c.4391A>T	XP_011520682.1:p.Tyr1464Phe
XM_011522381.1:c.3692A>T	XP_011520683.1:p.Tyr1231Phe
XM_005255124.4:c.4400A>T	XP_005255181.1:p.Tyr1467Phe
XM_005255125.4:c.4028A>T	XP_005255182.1:p.Tyr1343Phe
XM_006720848.3:c.4184A>T	XP_006720911.1:p.Tyr1395Phe
XM_011522381.2:c.3692A>T	XP_011520683.1:p.Tyr1231Phe
XM_017022944.1:c.4439A>T	XP_016878433.1:p.Tyr1480Phe
NM_004380.3:c.4445A>T MANE Select	NP_004371.2:p.Tyr1482Phe