Canonical Allele Identifier: CA383802380
Community Standard Title: NM_015509.4(NECAP1):c.709G>A (p.Val237Ile)
Gene: NECAP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.8095633G>A , CM000674.2:g.8095633G>A GRCh38
NC_000012.11:g.8248229G>A , CM000674.1:g.8248229G>A GRCh37
NC_000012.10:g.8139496G>A NCBI36
NG_034155.1:g.18423G>A

Transcript Alleles

HGVS Amino-acid Change
NM_015509.4:c.709G>A MANE Select NP_056324.2:p.Val237Ile
ENST00000339754.11:c.709G>A MANE Select ENSP00000341737.5:p.Val237Ile
NM_015509.3:c.709G>A NP_056324.2:p.Val237Ile
NR_024260.1:n.705G>A
NR_024260.2:n.642G>A
ENST00000339754.9:c.709G>A ENSP00000341737.5:p.Val237Ile
ENST00000450991.6:c.*318G>A ENSP00000401963.2:n.*318G>A
ENST00000537796.1:n.1329G>A
ENST00000537796.2:n.1630G>A
ENST00000540083.1:c.283G>A ENSP00000439319.1:p.Val95Ile
ENST00000541948.1:c.*185G>A ENSP00000440658.1:n.*185G>A
ENST00000541948.2:c.697G>A ENSP00000440658.2:p.Val233Ile
ENST00000544891.6:n.3099G>A
ENST00000545807.6:n.1673G>A
ENST00000638237.1:c.697G>A ENSP00000492254.1:p.Val233Ile
ENST00000638334.1:c.208G>A ENSP00000492472.1:p.Val70Ile
ENST00000638787.1:c.*185G>A ENSP00000491384.1:n.*185G>A
ENST00000638883.1:n.2176G>A
ENST00000639038.1:c.*305G>A ENSP00000492452.1:n.*305G>A
ENST00000639071.1:n.811G>A
ENST00000639167.1:c.421G>A ENSP00000490999.1:p.Val141Ile
ENST00000639276.1:n.888G>A
ENST00000639595.1:c.*49G>A ENSP00000492560.1:n.*49G>A
ENST00000639811.1:c.677-409G>A ENSP00000492554.1:n.677-409G>A
ENST00000639841.1:c.226G>A
ENST00000639955.1:c.709G>A ENSP00000491067.1:p.Val237Ile
ENST00000640072.1:n.1660G>A
ENST00000640091.1:n.356G>A
ENST00000640099.1:n.1546G>A
ENST00000640209.1:c.*305G>A ENSP00000492613.1:n.*305G>A
ENST00000640481.1:n.1452G>A
ENST00000640648.1:n.3397G>A