Canonical Allele Identifier: CA394564613

Gene: CREBBP

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3738663G>T , CM000678.2:g.3738663G>T	GRCh38
NC_000016.9:g.3788664G>T , CM000678.1:g.3788664G>T	GRCh37
NC_000016.8:g.3728665G>T	NCBI36
NG_009873.1:g.146458C>A
NG_009873.2:g.147051C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_004380.3:c.4290C>A MANE Select	NP_004371.2:p.Tyr1430Ter
ENST00000262367.10:c.4290C>A MANE Select	ENSP00000262367.5:p.Tyr1430Ter
NM_001079846.1:c.4176C>A	NP_001073315.1:p.Tyr1392Ter
NM_004380.2:c.4290C>A	NP_004371.2:p.Tyr1430Ter
ENST00000262367.9:c.4290C>A	ENSP00000262367.5:p.Tyr1430Ter
ENST00000382070.7:c.4176C>A	ENSP00000371502.3:p.Tyr1392Ter
ENST00000570939.2:c.2925C>A	ENSP00000461002.2:p.Tyr975Ter
ENST00000574740.1:n.215+1736C>A
ENST00000576720.1:n.3217+915C>A
XM_005255124.3:c.4245C>A	XP_005255181.1:p.Tyr1415Ter
XM_005255124.4:c.4245C>A	XP_005255181.1:p.Tyr1415Ter
XM_005255125.3:c.3873C>A	XP_005255182.1:p.Tyr1291Ter
XM_005255125.4:c.3873C>A	XP_005255182.1:p.Tyr1291Ter
XM_006720848.2:c.4133+1736C>A	XP_006720911.1:n.4133+1736C>A
XM_006720848.3:c.4133+1736C>A	XP_006720911.1:n.4133+1736C>A
XM_011522380.1:c.4236C>A	XP_011520682.1:p.Tyr1412Ter
XM_011522381.1:c.3537C>A	XP_011520683.1:p.Tyr1179Ter
XM_011522381.2:c.3537C>A	XP_011520683.1:p.Tyr1179Ter
XM_017022944.1:c.4284C>A	XP_016878433.1:p.Tyr1428Ter