Canonical Allele Identifier: CA394563495

Gene: CREBBP

Linked Data

• dbSNP Id: rs2151329373
• MyVariant Identifiers: chr16:g.3786695T>A (hg19) ; chr16:g.3736694T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3736694T>A , CM000678.2:g.3736694T>A	GRCh38
NC_000016.9:g.3786695T>A , CM000678.1:g.3786695T>A	GRCh37
NC_000016.8:g.3726696T>A	NCBI36
NG_009873.1:g.148427A>T
NG_009873.2:g.149020A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.4516A>T MANE Select	ENSP00000262367.5:p.Met1506Leu
ENST00000262367.9:c.4516A>T	ENSP00000262367.5:p.Met1506Leu
ENST00000382070.7:c.4402A>T	ENSP00000371502.3:p.Met1468Leu
ENST00000570939.2:c.3151A>T	ENSP00000461002.2:p.Met1051Leu
ENST00000571763.5:n.306A>T
ENST00000574740.1:n.337A>T
ENST00000576720.1:n.3339A>T
NM_001079846.1:c.4402A>T	NP_001073315.1:p.Met1468Leu
NM_004380.2:c.4516A>T	NP_004371.2:p.Met1506Leu
XM_005255124.3:c.4471A>T	XP_005255181.1:p.Met1491Leu
XM_005255125.3:c.4099A>T	XP_005255182.1:p.Met1367Leu
XM_006720848.2:c.4255A>T	XP_006720911.1:p.Met1419Leu
XM_011522380.1:c.4462A>T	XP_011520682.1:p.Met1488Leu
XM_011522381.1:c.3763A>T	XP_011520683.1:p.Met1255Leu
XM_005255124.4:c.4471A>T	XP_005255181.1:p.Met1491Leu
XM_005255125.4:c.4099A>T	XP_005255182.1:p.Met1367Leu
XM_006720848.3:c.4255A>T	XP_006720911.1:p.Met1419Leu
XM_011522381.2:c.3763A>T	XP_011520683.1:p.Met1255Leu
XM_017022944.1:c.4510A>T	XP_016878433.1:p.Met1504Leu
NM_004380.3:c.4516A>T MANE Select	NP_004371.2:p.Met1506Leu