Canonical Allele Identifier: CA847450376

Gene: ASAP1

Linked Data

• dbSNP Id: rs1335588520
• gnomAD v3: 8-130317528-C-T
• gnomAD v4: 8-130317528-C-T
• MyVariant Identifiers: chr8:g.131329774C>T (hg19) ; chr8:g.130317528C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.130317528C>T , CM000670.2:g.130317528C>T	GRCh38
NC_000008.10:g.131329774C>T , CM000670.1:g.131329774C>T	GRCh37
NC_000008.9:g.131398956C>T	NCBI36
NG_030354.1:g.131133G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000518721.6:c.186+40489G>A MANE Select	ENSP00000429900.1:n.186+40489G>A
ENST00000357668.2:c.165+40489G>A	ENSP00000350297.2:n.165+40489G>A
ENST00000518721.5:c.186+40489G>A	ENSP00000429900.1:n.186+40489G>A
ENST00000520927.5:c.*168+40489G>A	ENSP00000428629.1:n.*168+40489G>A
ENST00000521075.5:c.*168+40489G>A	ENSP00000428463.1:n.*168+40489G>A
ENST00000521426.5:c.165+40489G>A	ENSP00000430917.1:n.165+40489G>A
ENST00000524299.1:c.*168+40489G>A	ENSP00000429614.1:n.*168+40489G>A
ENST00000524367.5:n.96+23314G>A
NM_001247996.1:c.165+40489G>A	NP_001234925.1:n.165+40489G>A
NM_018482.3:c.186+40489G>A	NP_060952.2:n.186+40489G>A
XM_005250925.1:c.186+40489G>A	XP_005250982.1:n.186+40489G>A
XM_006716563.2:c.186+40489G>A	XP_006716626.1:n.186+40489G>A
XM_006716564.1:c.165+40489G>A	XP_006716627.1:n.165+40489G>A
XM_006716565.2:c.-120-27390G>A	XP_006716628.1:n.-120-27390G>A
XM_006716566.1:c.186+40489G>A	XP_006716629.1:n.186+40489G>A
XM_006716567.2:c.10-80534G>A	XP_006716630.1:n.10-80534G>A
XM_011517052.1:c.186+40489G>A	XP_011515354.1:n.186+40489G>A
XM_011517053.1:c.165+40489G>A	XP_011515355.1:n.165+40489G>A
XR_928643.1:n.2757C>T
XR_928644.1:n.2572C>T
XR_928645.1:n.2600C>T
NM_001362924.1:c.186+40489G>A	NP_001349853.1:n.186+40489G>A
NM_001362925.1:c.186+40489G>A	NP_001349854.1:n.186+40489G>A
NM_001362926.1:c.186+40489G>A	NP_001349855.1:n.186+40489G>A
XM_006716563.3:c.186+40489G>A	XP_006716626.1:n.186+40489G>A
XM_006716565.3:c.-120-27390G>A	XP_006716628.1:n.-120-27390G>A
XM_011517052.2:c.186+40489G>A	XP_011515354.1:n.186+40489G>A
XM_017013467.2:c.51+40154G>A	XP_016868956.1:n.51+40154G>A
XM_017013468.1:c.10-80534G>A	XP_016868957.1:n.10-80534G>A
NM_018482.4:c.186+40489G>A MANE Select	NP_060952.2:n.186+40489G>A
NM_001362925.2:c.186+40489G>A	NP_001349854.1:n.186+40489G>A
NM_001362926.2:c.186+40489G>A	NP_001349855.1:n.186+40489G>A
NM_001247996.2:c.165+40489G>A	NP_001234925.1:n.165+40489G>A