Canonical Allele Identifier: CA1682802087
Gene: MAD1L1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.1846899G>A , CM000669.2:g.1846899G>A GRCh38
NC_000007.13:g.1886535G>A , CM000669.1:g.1886535G>A GRCh37
NC_000007.12:g.1853061G>A NCBI36
NG_011518.1:g.391049C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000265854.12:c.1999-30671C>T MANE Select ENSP00000265854.7:n.1999-30671C>T
ENST00000651235.1:c.*4759-30671C>T ENSP00000498895.1:n.*4759-30671C>T
ENST00000265854.11:c.1999-30671C>T ENSP00000265854.7:n.1999-30671C>T
ENST00000399654.6:c.1999-30671C>T ENSP00000382562.2:n.1999-30671C>T
ENST00000402746.5:c.1723-30671C>T ENSP00000384155.1:n.1723-30671C>T
ENST00000406869.5:c.1999-30671C>T ENSP00000385334.1:n.1999-30671C>T
ENST00000450235.5:c.652-30671C>T ENSP00000394886.1:n.652-30671C>T
ENST00000481633.1:n.112+25746C>T
NM_001013836.1:c.1999-30671C>T NP_001013858.1:n.1999-30671C>T
NM_001013837.1:c.1999-30671C>T NP_001013859.1:n.1999-30671C>T
NM_001304523.1:c.1999-30671C>T NP_001291452.1:n.1999-30671C>T
NM_001304524.1:c.1723-30671C>T NP_001291453.1:n.1723-30671C>T
NM_001304525.1:c.367-30671C>T NP_001291454.1:n.367-30671C>T
NM_003550.2:c.1999-30671C>T NP_003541.2:n.1999-30671C>T
XM_005249877.1:c.1858-30671C>T XP_005249934.1:n.1858-30671C>T
XM_011515567.1:c.1942-30671C>T XP_011513869.1:n.1942-30671C>T
XM_011515569.1:c.769-30671C>T XP_011513871.1:n.769-30671C>T
XM_011515571.1:c.769-30671C>T XP_011513873.1:n.769-30671C>T
XR_108730.2:n.1188-349G>A
XR_926990.1:n.1687G>A
XM_011515569.3:c.1033-30671C>T XP_011513871.2:n.1033-30671C>T
XM_017012690.1:c.2191-30671C>T XP_016868179.1:n.2191-30671C>T
XM_017012691.2:c.769-30671C>T XP_016868180.1:n.769-30671C>T
XM_024446951.1:c.1942-30671C>T XP_024302719.1:n.1942-30671C>T
XM_024446952.1:c.1942-30671C>T XP_024302720.1:n.1942-30671C>T
XR_108730.4:n.1999-349G>A
NM_001013836.2:c.1999-30671C>T MANE Select NP_001013858.1:n.1999-30671C>T
NM_001013837.2:c.1999-30671C>T NP_001013859.1:n.1999-30671C>T
NM_001304523.2:c.1999-30671C>T NP_001291452.1:n.1999-30671C>T
NM_001304524.2:c.1723-30671C>T NP_001291453.1:n.1723-30671C>T
NM_001304525.2:c.367-30671C>T NP_001291454.1:n.367-30671C>T
NM_003550.3:c.1999-30671C>T NP_003541.2:n.1999-30671C>T