Canonical Allele Identifier: CA12553565
Gene: MAD1L1 HGNC NCBI
dbSNP:
4332037
gnomAD v2:
7:1950809 C / T
gnomAD v3:
7:1911173 C / T
gnomAD v4:
chr7-1911173-C-T
Joint Max Group AF 0.2658732 (SAS)
Genomes Max Group AF 0.2658732 (SAS)
MyVariant.info:
GRCh38 chr7:g.1911173C>T
GRCh37 chr7:g.1950809C>T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.1911173C>T , CM000669.2:g.1911173C>T GRCh38
NC_000007.13:g.1950809C>T , CM000669.1:g.1950809C>T GRCh37
NC_000007.12:g.1917335C>T NCBI36
NG_011518.1:g.326775G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000265854.12:c.1808-12783G>A MANE Select ENSP00000265854.7:n.1808-12783G>A
ENST00000651235.1:c.*4568-12783G>A ENSP00000498895.1:n.*4568-12783G>A
ENST00000265854.11:c.1808-12783G>A ENSP00000265854.7:n.1808-12783G>A
ENST00000399654.6:c.1808-12783G>A ENSP00000382562.2:n.1808-12783G>A
ENST00000402746.5:c.1532-12783G>A ENSP00000384155.1:n.1532-12783G>A
ENST00000406869.5:c.1808-12783G>A ENSP00000385334.1:n.1808-12783G>A
ENST00000437877.1:c.176-12783G>A ENSP00000394069.1:n.176-12783G>A
ENST00000450235.5:c.461-12783G>A ENSP00000394886.1:n.461-12783G>A
NM_001013836.1:c.1808-12783G>A NP_001013858.1:n.1808-12783G>A
NM_001013837.1:c.1808-12783G>A NP_001013859.1:n.1808-12783G>A
NM_001304523.1:c.1808-12783G>A NP_001291452.1:n.1808-12783G>A
NM_001304524.1:c.1532-12783G>A NP_001291453.1:n.1532-12783G>A
NM_001304525.1:c.176-12783G>A NP_001291454.1:n.176-12783G>A
NM_003550.2:c.1808-12783G>A NP_003541.2:n.1808-12783G>A
XM_005249877.1:c.1667-12783G>A XP_005249934.1:n.1667-12783G>A
XM_011515567.1:c.1751-12783G>A XP_011513869.1:n.1751-12783G>A
XM_011515569.1:c.578-12783G>A XP_011513871.1:n.578-12783G>A
XM_011515571.1:c.578-12783G>A XP_011513873.1:n.578-12783G>A
XM_011515569.3:c.842-12783G>A XP_011513871.2:n.842-12783G>A
XM_017012690.1:c.2000-12783G>A XP_016868179.1:n.2000-12783G>A
XM_017012691.2:c.578-12783G>A XP_016868180.1:n.578-12783G>A
XM_024446951.1:c.1751-12783G>A XP_024302719.1:n.1751-12783G>A
XM_024446952.1:c.1751-12783G>A XP_024302720.1:n.1751-12783G>A
NM_001013836.2:c.1808-12783G>A MANE Select NP_001013858.1:n.1808-12783G>A
NM_001013837.2:c.1808-12783G>A NP_001013859.1:n.1808-12783G>A
NM_001304523.2:c.1808-12783G>A NP_001291452.1:n.1808-12783G>A
NM_001304524.2:c.1532-12783G>A NP_001291453.1:n.1532-12783G>A
NM_001304525.2:c.176-12783G>A NP_001291454.1:n.176-12783G>A
NM_003550.3:c.1808-12783G>A NP_003541.2:n.1808-12783G>A
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