Canonical Allele Identifier: CA1097563752

Gene: MAD1L1

Linked Data

• gnomAD v3: 7-1997071-T-A
• gnomAD v4: 7-1997071-T-A

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.1997071T>A , CM000669.2:g.1997071T>A	GRCh38
NC_000007.13:g.2036706T>A , CM000669.1:g.2036706T>A	GRCh37
NC_000007.12:g.2003232T>A	NCBI36
NG_011518.1:g.240878A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000265854.12:c.1416+4994A>T MANE Select	ENSP00000265854.7:n.1416+4994A>T
ENST00000651235.1:c.*4176+4994A>T	ENSP00000498895.1:n.*4176+4994A>T
ENST00000265854.11:c.1416+4994A>T	ENSP00000265854.7:n.1416+4994A>T
ENST00000399654.6:c.1416+4994A>T	ENSP00000382562.2:n.1416+4994A>T
ENST00000402746.5:c.1140+4994A>T	ENSP00000384155.1:n.1140+4994A>T
ENST00000406869.5:c.1416+4994A>T	ENSP00000385334.1:n.1416+4994A>T
ENST00000438959.5:c.417+4994A>T	ENSP00000414877.1:n.417+4994A>T
ENST00000444373.6:c.186+4994A>T	ENSP00000393037.2:n.186+4994A>T
NM_001013836.1:c.1416+4994A>T	NP_001013858.1:n.1416+4994A>T
NM_001013837.1:c.1416+4994A>T	NP_001013859.1:n.1416+4994A>T
NM_001304523.1:c.1416+4994A>T	NP_001291452.1:n.1416+4994A>T
NM_001304524.1:c.1140+4994A>T	NP_001291453.1:n.1140+4994A>T
NM_003550.2:c.1416+4994A>T	NP_003541.2:n.1416+4994A>T
XM_005249877.1:c.1275+4994A>T	XP_005249934.1:n.1275+4994A>T
XM_011515567.1:c.1360-16530A>T	XP_011513869.1:n.1360-16530A>T
XM_011515568.1:c.1417-4694A>T	XP_011513870.1:n.1417-4694A>T
XM_011515569.1:c.186+4994A>T	XP_011513871.1:n.186+4994A>T
XM_011515571.1:c.186+4994A>T	XP_011513873.1:n.186+4994A>T
XM_011515568.3:c.1417-4694A>T	XP_011513870.1:n.1417-4694A>T
XM_011515569.3:c.450+4994A>T	XP_011513871.2:n.450+4994A>T
XM_017012690.1:c.1608+4994A>T	XP_016868179.1:n.1608+4994A>T
XM_017012691.2:c.186+4994A>T	XP_016868180.1:n.186+4994A>T
XM_024446951.1:c.1360-16530A>T	XP_024302719.1:n.1360-16530A>T
XM_024446952.1:c.1360-16530A>T	XP_024302720.1:n.1360-16530A>T
NM_001013836.2:c.1416+4994A>T MANE Select	NP_001013858.1:n.1416+4994A>T
NM_001013837.2:c.1416+4994A>T	NP_001013859.1:n.1416+4994A>T
NM_001304523.2:c.1416+4994A>T	NP_001291452.1:n.1416+4994A>T
NM_001304524.2:c.1140+4994A>T	NP_001291453.1:n.1140+4994A>T
NM_003550.3:c.1416+4994A>T	NP_003541.2:n.1416+4994A>T