Canonical Allele Identifier: CA8407748

Gene: NCOR1 TTC19

Linked Data

• ClinVar Variation Id: 321984
• ClinVar RCV Id: RCV000383682
• dbSNP Id: rs9890012
• ExAC: 17:15932627 T / C
• gnomAD v2: 17-15932627-T-C
• gnomAD v3: 17-16029313-T-C
• gnomAD v4: 17-16029313-T-C
• MyVariant Identifiers: chr17:g.15932627T>C (hg19) ; chr17:g.16029313T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.16029313T>C , CM000679.2:g.16029313T>C	GRCh38
NC_000017.10:g.15932627T>C , CM000679.1:g.15932627T>C	GRCh37
NC_000017.9:g.15873352T>C	NCBI36
NG_029806.1:g.34934T>C
NG_047111.1:g.192434A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000436068.2:c.*2983A>G (NCOR1)	ENSP00000389839.2:n.*2983A>G
ENST00000704743.1:n.9254A>G (NCOR1)
ENST00000704744.1:c.*2983A>G (NCOR1)	ENSP00000516021.1:n.*2983A>G
ENST00000704745.1:c.*2983A>G (NCOR1)	ENSP00000516022.1:n.*2983A>G
ENST00000261647.10:c.*1791T>C (TTC19) MANE Select	ENSP00000261647.5:n.*1791T>C
ENST00000268712.8:c.*2983A>G (NCOR1) MANE Select	ENSP00000268712.2:n.*2983A>G
ENST00000268712.7:c.*2983A>G (NCOR1)	ENSP00000268712.2:n.*2983A>G
ENST00000470649.1:c.247+2611T>C (TTC19)	ENSP00000465627.1:n.247+2611T>C
NM_001271420.1:c.*1791T>C (TTC19)	NP_001258349.1:n.*1791T>C
NM_017775.3:c.*1791T>C (TTC19)	NP_060245.3:n.*1791T>C
XM_017024801.2:c.994+2611T>C (TTC19)	XP_016880290.2:n.994+2611T>C
XM_017024802.2:c.994+2611T>C (TTC19)	XP_016880291.2:n.994+2611T>C
NM_006311.4:c.*2983A>G (NCOR1) MANE Select	NP_006302.2:n.*2983A>G
NM_017775.4:c.*1791T>C (TTC19) MANE Select	NP_060245.3:n.*1791T>C
NM_001271420.2:c.*1791T>C (TTC19)	NP_001258349.1:n.*1791T>C