Canonical Allele Identifier: CA397149419

Gene: ANKRD11

Linked Data

• ClinVar Variation Id: 2013199
• ClinVar RCV Id: RCV002834489
• gnomAD v4: 16-89279485-G-T
• MyVariant Identifiers: chr16:g.89345893G>T (hg19) ; chr16:g.89279485G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89279485G>T , CM000678.2:g.89279485G>T	GRCh38
NC_000016.9:g.89345893G>T , CM000678.1:g.89345893G>T	GRCh37
NC_000016.8:g.87873394G>T	NCBI36
NG_032003.1:g.216077C>A
NG_032003.2:g.216077C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301030.10:c.7057C>A MANE Select	ENSP00000301030.4:p.Pro2353Thr
ENST00000330736.10:c.*6860C>A	ENSP00000330815.5:n.*6860C>A
ENST00000378330.7:c.7057C>A	ENSP00000367581.2:p.Pro2353Thr
ENST00000642600.1:c.7057C>A	ENSP00000495226.1:p.Pro2353Thr
ENST00000644285.1:c.745-4294C>A	ENSP00000496476.1:n.745-4294C>A
ENST00000301030.8:c.7057C>A	ENSP00000301030.4:p.Pro2353Thr
ENST00000330736.9:c.*6860C>A	ENSP00000330815.5:n.*6860C>A
ENST00000378330.6:c.7057C>A	ENSP00000367581.2:p.Pro2353Thr
ENST00000562194.1:c.152-4294C>A
ENST00000623388.1:n.232C>A
NM_001256182.1:c.7057C>A	NP_001243111.1:p.Pro2353Thr
NM_001256183.1:c.7057C>A	NP_001243112.1:p.Pro2353Thr
NM_013275.5:c.7057C>A	NP_037407.4:p.Pro2353Thr
XM_006721181.1:c.6955C>A	XP_006721244.1:p.Pro2319Thr
XM_006721184.2:c.6760C>A	XP_006721247.1:p.Pro2254Thr
XM_011523051.1:c.7057C>A	XP_011521353.1:p.Pro2353Thr
XM_011523052.1:c.7057C>A	XP_011521354.1:p.Pro2353Thr
XM_011523053.1:c.7057C>A	XP_011521355.1:p.Pro2353Thr
XM_011523054.1:c.6955C>A	XP_011521356.1:p.Pro2319Thr
XM_011523055.1:c.6955C>A	XP_011521357.1:p.Pro2319Thr
XM_011523056.1:c.6928C>A	XP_011521358.1:p.Pro2310Thr
XM_011523057.1:c.7057C>A	XP_011521359.1:p.Pro2353Thr
XM_011523051.3:c.7057C>A	XP_011521353.1:p.Pro2353Thr
XM_011523053.2:c.7057C>A	XP_011521355.1:p.Pro2353Thr
XM_011523054.2:c.6955C>A	XP_011521356.1:p.Pro2319Thr
XM_011523055.2:c.6955C>A	XP_011521357.1:p.Pro2319Thr
XM_011523056.2:c.6928C>A	XP_011521358.1:p.Pro2310Thr
XM_011523057.2:c.7057C>A	XP_011521359.1:p.Pro2353Thr
XM_017023182.2:c.7057C>A	XP_016878671.1:p.Pro2353Thr
XM_017023183.1:c.7057C>A	XP_016878672.1:p.Pro2353Thr
XM_017023184.1:c.7057C>A	XP_016878673.1:p.Pro2353Thr
XM_017023185.1:c.7057C>A	XP_016878674.1:p.Pro2353Thr
XM_017023186.1:c.7057C>A	XP_016878675.1:p.Pro2353Thr
XM_017023187.1:c.7057C>A	XP_016878676.1:p.Pro2353Thr
XM_024450244.1:c.6955C>A	XP_024306012.1:p.Pro2319Thr
NM_013275.6:c.7057C>A MANE Select	NP_037407.4:p.Pro2353Thr
NM_001256182.2:c.7057C>A	NP_001243111.1:p.Pro2353Thr
NM_001256183.2:c.7057C>A	NP_001243112.1:p.Pro2353Thr