Canonical Allele Identifier: CA2635574984
Gene: MINK1 HGNC NCBI

Linked Data

gnomAD v4: 17-4897677-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.4897677C>T , CM000679.2:g.4897677C>T GRCh38
NC_000017.10:g.4800972C>T , CM000679.1:g.4800972C>T GRCh37
NC_000017.9:g.4741748C>T NCBI36
NG_008029.2:g.10399G>A
NG_028005.1:g.69338C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000355280.11:c.*390C>T MANE Select ENSP00000347427.6:n.*390C>T
ENST00000347992.11:c.*390C>T ENSP00000269296.7:n.*390C>T
ENST00000355280.10:c.*390C>T ENSP00000347427.6:n.*390C>T
ENST00000571207.5:c.4185C>T
ENST00000572330.5:n.5171C>T
ENST00000574453.5:c.*4058C>T ENSP00000461500.1:n.*4058C>T
ENST00000574871.1:n.2767C>T
NM_001024937.3:c.*390C>T NP_001020108.1:n.*390C>T
NM_015716.4:c.*390C>T NP_056531.1:n.*390C>T
NM_153827.4:c.*390C>T NP_722549.2:n.*390C>T
NM_170663.4:c.*390C>T NP_733763.1:n.*390C>T
XM_005256664.2:c.*390C>T XP_005256721.1:n.*390C>T
XM_005256665.2:c.*390C>T XP_005256722.1:n.*390C>T
XM_006721530.2:c.*390C>T XP_006721593.1:n.*390C>T
XM_006721531.2:c.*390C>T XP_006721594.1:n.*390C>T
XM_006721532.2:c.*390C>T XP_006721595.1:n.*390C>T
XM_006721533.2:c.*390C>T XP_006721596.1:n.*390C>T
XM_006721534.2:c.*390C>T XP_006721597.1:n.*390C>T
XM_006721535.2:c.*390C>T XP_006721598.1:n.*390C>T
XM_006721536.2:c.*390C>T XP_006721599.1:n.*390C>T
XM_006721538.2:c.*390C>T XP_006721601.1:n.*390C>T
XM_011523905.1:c.*390C>T XP_011522207.1:n.*390C>T
XM_011523906.1:c.*390C>T XP_011522208.1:n.*390C>T
XM_011523907.1:c.*390C>T XP_011522209.1:n.*390C>T
XM_011523908.1:c.*390C>T XP_011522210.1:n.*390C>T
NM_001321236.1:c.*390C>T NP_001308165.1:n.*390C>T
XM_017024704.1:c.*390C>T XP_016880193.1:n.*390C>T
XM_017024705.1:c.*390C>T XP_016880194.1:n.*390C>T
XM_017024706.1:c.*390C>T XP_016880195.1:n.*390C>T
XM_017024707.2:c.*390C>T XP_016880196.1:n.*390C>T
XM_017024708.1:c.*390C>T XP_016880197.1:n.*390C>T
XR_001752522.2:n.4734C>T
NM_153827.5:c.*390C>T MANE Select NP_722549.2:n.*390C>T
NM_001024937.4:c.*390C>T NP_001020108.1:n.*390C>T
NM_001321236.2:c.*390C>T NP_001308165.1:n.*390C>T
NM_015716.5:c.*390C>T NP_056531.1:n.*390C>T
NM_170663.5:c.*390C>T NP_733763.1:n.*390C>T