Canonical Allele Identifier: CA1819739598
Gene: ASAP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.130317591C>A , CM000670.2:g.130317591C>A GRCh38
NC_000008.10:g.131329837C>A , CM000670.1:g.131329837C>A GRCh37
NC_000008.9:g.131399019C>A NCBI36
NG_030354.1:g.131070G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000518721.6:c.186+40426G>T MANE Select ENSP00000429900.1:n.186+40426G>T
ENST00000357668.2:c.165+40426G>T ENSP00000350297.2:n.165+40426G>T
ENST00000518721.5:c.186+40426G>T ENSP00000429900.1:n.186+40426G>T
ENST00000520927.5:c.*168+40426G>T ENSP00000428629.1:n.*168+40426G>T
ENST00000521075.5:c.*168+40426G>T ENSP00000428463.1:n.*168+40426G>T
ENST00000521426.5:c.165+40426G>T ENSP00000430917.1:n.165+40426G>T
ENST00000524299.1:c.*168+40426G>T ENSP00000429614.1:n.*168+40426G>T
ENST00000524367.5:n.96+23251G>T
NM_001247996.1:c.165+40426G>T NP_001234925.1:n.165+40426G>T
NM_018482.3:c.186+40426G>T NP_060952.2:n.186+40426G>T
XM_005250925.1:c.186+40426G>T XP_005250982.1:n.186+40426G>T
XM_006716563.2:c.186+40426G>T XP_006716626.1:n.186+40426G>T
XM_006716564.1:c.165+40426G>T XP_006716627.1:n.165+40426G>T
XM_006716565.2:c.-120-27453G>T XP_006716628.1:n.-120-27453G>T
XM_006716566.1:c.186+40426G>T XP_006716629.1:n.186+40426G>T
XM_006716567.2:c.10-80597G>T XP_006716630.1:n.10-80597G>T
XM_011517052.1:c.186+40426G>T XP_011515354.1:n.186+40426G>T
XM_011517053.1:c.165+40426G>T XP_011515355.1:n.165+40426G>T
XR_928643.1:n.2820C>A
XR_928644.1:n.2635C>A
XR_928645.1:n.2663C>A
NM_001362924.1:c.186+40426G>T NP_001349853.1:n.186+40426G>T
NM_001362925.1:c.186+40426G>T NP_001349854.1:n.186+40426G>T
NM_001362926.1:c.186+40426G>T NP_001349855.1:n.186+40426G>T
XM_006716563.3:c.186+40426G>T XP_006716626.1:n.186+40426G>T
XM_006716565.3:c.-120-27453G>T XP_006716628.1:n.-120-27453G>T
XM_011517052.2:c.186+40426G>T XP_011515354.1:n.186+40426G>T
XM_017013467.2:c.51+40091G>T XP_016868956.1:n.51+40091G>T
XM_017013468.1:c.10-80597G>T XP_016868957.1:n.10-80597G>T
NM_018482.4:c.186+40426G>T MANE Select NP_060952.2:n.186+40426G>T
NM_001362925.2:c.186+40426G>T NP_001349854.1:n.186+40426G>T
NM_001362926.2:c.186+40426G>T NP_001349855.1:n.186+40426G>T
NM_001247996.2:c.165+40426G>T NP_001234925.1:n.165+40426G>T