Canonical Allele Identifier: CA385143327
Gene: NCKAP1L HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.54532251G>A , CM000674.2:g.54532251G>A GRCh38
NC_000012.11:g.54926035G>A , CM000674.1:g.54926035G>A GRCh37
NC_000012.10:g.53212302G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000293373.11:c.2862+1G>A MANE Select ENSP00000293373.6:n.2862+1G>A
ENST00000293373.10:c.2862+1G>A ENSP00000293373.6:n.2862+1G>A
ENST00000545638.2:c.2712+1G>A ENSP00000445596.2:n.2712+1G>A
ENST00000548221.5:c.*1567+1G>A ENSP00000447246.1:n.*1567+1G>A
ENST00000548980.1:n.44+1G>A
NM_001184976.1:c.2712+1G>A NP_001171905.1:n.2712+1G>A
NM_005337.4:c.2862+1G>A NP_005328.2:n.2862+1G>A
NM_005337.5:c.2862+1G>A MANE Select NP_005328.2:n.2862+1G>A
NM_001184976.2:c.2712+1G>A NP_001171905.1:n.2712+1G>A