Canonical Allele Identifier: CA2688588076

Gene: ASAP1

Linked Data

• gnomAD v4: 8-130080076-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.130080076G>A , CM000670.2:g.130080076G>A	GRCh38
NC_000008.10:g.131092322G>A , CM000670.1:g.131092322G>A	GRCh37
NC_000008.9:g.131161504G>A	NCBI36
NG_030354.1:g.368585C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000518721.6:c.2573-105C>T MANE Select	ENSP00000429900.1:n.2573-105C>T
ENST00000357668.2:c.2552-105C>T	ENSP00000350297.2:n.2552-105C>T
ENST00000518721.5:c.2573-105C>T	ENSP00000429900.1:n.2573-105C>T
ENST00000519483.5:c.642-105C>T
ENST00000520189.1:n.493-105C>T
ENST00000521075.5:c.*2555-105C>T	ENSP00000428463.1:n.*2555-105C>T
ENST00000524124.5:c.2034-105C>T
NM_001247996.1:c.2552-105C>T	NP_001234925.1:n.2552-105C>T
NM_018482.3:c.2573-105C>T	NP_060952.2:n.2573-105C>T
XM_005250925.1:c.2582-105C>T	XP_005250982.1:n.2582-105C>T
XM_006716563.2:c.2582-105C>T	XP_006716626.1:n.2582-105C>T
XM_006716564.1:c.2561-105C>T	XP_006716627.1:n.2561-105C>T
XM_006716565.2:c.2414-105C>T	XP_006716628.1:n.2414-105C>T
XM_006716566.1:c.2411-105C>T	XP_006716629.1:n.2411-105C>T
XM_006716567.2:c.2405-105C>T	XP_006716630.1:n.2405-105C>T
XM_011517052.1:c.2582-105C>T	XP_011515354.1:n.2582-105C>T
XM_011517053.1:c.2561-105C>T	XP_011515355.1:n.2561-105C>T
NM_001362924.1:c.2582-105C>T	NP_001349853.1:n.2582-105C>T
NM_001362925.1:c.2411-105C>T	NP_001349854.1:n.2411-105C>T
NM_001362926.1:c.2402-105C>T	NP_001349855.1:n.2402-105C>T
XM_006716563.3:c.2582-105C>T	XP_006716626.1:n.2582-105C>T
XM_006716565.3:c.2414-105C>T	XP_006716628.1:n.2414-105C>T
XM_011517052.2:c.2582-105C>T	XP_011515354.1:n.2582-105C>T
XM_017013467.2:c.2447-105C>T	XP_016868956.1:n.2447-105C>T
XM_017013468.1:c.2405-105C>T	XP_016868957.1:n.2405-105C>T
NM_018482.4:c.2573-105C>T MANE Select	NP_060952.2:n.2573-105C>T
NM_001362925.2:c.2411-105C>T	NP_001349854.1:n.2411-105C>T
NM_001362926.2:c.2402-105C>T	NP_001349855.1:n.2402-105C>T
NM_001247996.2:c.2552-105C>T	NP_001234925.1:n.2552-105C>T