Canonical Allele Identifier: CA394568316

Gene: CREBBP

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3757296A>C , CM000678.2:g.3757296A>C	GRCh38
NC_000016.9:g.3807297A>C , CM000678.1:g.3807297A>C	GRCh37
NC_000016.8:g.3747298A>C	NCBI36
NG_009873.1:g.127825T>G
NG_009873.2:g.128418T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_004380.3:c.3690T>G MANE Select	NP_004371.2:p.Tyr1230Ter
ENST00000262367.10:c.3690T>G MANE Select	ENSP00000262367.5:p.Tyr1230Ter
NM_001079846.1:c.3576T>G	NP_001073315.1:p.Tyr1192Ter
NM_004380.2:c.3690T>G	NP_004371.2:p.Tyr1230Ter
ENST00000262367.9:c.3690T>G	ENSP00000262367.5:p.Tyr1230Ter
ENST00000382070.7:c.3576T>G	ENSP00000371502.3:p.Tyr1192Ter
ENST00000570939.2:c.2295T>G	ENSP00000461002.2:p.Tyr765Ter
XM_005255124.3:c.3645T>G	XP_005255181.1:p.Tyr1215Ter
XM_005255124.4:c.3645T>G	XP_005255181.1:p.Tyr1215Ter
XM_005255125.3:c.3273T>G	XP_005255182.1:p.Tyr1091Ter
XM_005255125.4:c.3273T>G	XP_005255182.1:p.Tyr1091Ter
XM_006720848.2:c.3690T>G	XP_006720911.1:p.Tyr1230Ter
XM_006720848.3:c.3690T>G	XP_006720911.1:p.Tyr1230Ter
XM_011522380.1:c.3636T>G	XP_011520682.1:p.Tyr1212Ter
XM_011522381.1:c.2937T>G	XP_011520683.1:p.Tyr979Ter
XM_011522381.2:c.2937T>G	XP_011520683.1:p.Tyr979Ter
XM_011522382.1:c.3690T>G	XP_011520684.1:p.Tyr1230Ter
XM_011522382.3:c.3690T>G	XP_011520684.1:p.Tyr1230Ter
XM_017022944.1:c.3684T>G	XP_016878433.1:p.Tyr1228Ter