Canonical Allele Identifier: CA2838478033

Gene: ASAP1

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.130112043A>G , CM000670.2:g.130112043A>G	GRCh38
NC_000008.10:g.131124289A>G , CM000670.1:g.131124289A>G	GRCh37
NC_000008.9:g.131193471A>G	NCBI36
NG_030354.1:g.336618T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000518721.6:c.2401+51T>C MANE Select	ENSP00000429900.1:n.2401+51T>C
ENST00000357668.2:c.2380+51T>C	ENSP00000350297.2:n.2380+51T>C
ENST00000518721.5:c.2401+51T>C	ENSP00000429900.1:n.2401+51T>C
ENST00000519483.5:c.641+51T>C
ENST00000520189.1:n.321+51T>C
ENST00000521075.5:c.*2383+51T>C	ENSP00000428463.1:n.*2383+51T>C
ENST00000524124.5:c.1862+51T>C
NM_001247996.1:c.2380+51T>C	NP_001234925.1:n.2380+51T>C
NM_018482.3:c.2401+51T>C	NP_060952.2:n.2401+51T>C
XM_005250925.1:c.2410+51T>C	XP_005250982.1:n.2410+51T>C
XM_006716563.2:c.2410+51T>C	XP_006716626.1:n.2410+51T>C
XM_006716564.1:c.2389+51T>C	XP_006716627.1:n.2389+51T>C
XM_006716565.2:c.2242+51T>C	XP_006716628.1:n.2242+51T>C
XM_006716566.1:c.2410+51T>C	XP_006716629.1:n.2410+51T>C
XM_006716567.2:c.2233+51T>C	XP_006716630.1:n.2233+51T>C
XM_011517052.1:c.2410+51T>C	XP_011515354.1:n.2410+51T>C
XM_011517053.1:c.2389+51T>C	XP_011515355.1:n.2389+51T>C
NM_001362924.1:c.2410+51T>C	NP_001349853.1:n.2410+51T>C
NM_001362925.1:c.2410+51T>C	NP_001349854.1:n.2410+51T>C
NM_001362926.1:c.2401+51T>C	NP_001349855.1:n.2401+51T>C
XM_006716563.3:c.2410+51T>C	XP_006716626.1:n.2410+51T>C
XM_006716565.3:c.2242+51T>C	XP_006716628.1:n.2242+51T>C
XM_011517052.2:c.2410+51T>C	XP_011515354.1:n.2410+51T>C
XM_017013467.2:c.2275+51T>C	XP_016868956.1:n.2275+51T>C
XM_017013468.1:c.2233+51T>C	XP_016868957.1:n.2233+51T>C
NM_018482.4:c.2401+51T>C MANE Select	NP_060952.2:n.2401+51T>C
NM_001362925.2:c.2410+51T>C	NP_001349854.1:n.2410+51T>C
NM_001362926.2:c.2401+51T>C	NP_001349855.1:n.2401+51T>C
NM_001247996.2:c.2380+51T>C	NP_001234925.1:n.2380+51T>C